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122 records found for search term Osbpl5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15159654CV777910single nucleotide variantNM_020896.4(OSBPL5):c.220-7C>Tnot provided [RCV000947319]benign1131224353122435Humanname
15184364CV777944single nucleotide variantNM_020896.4(OSBPL5):c.867-4C>Anot provided [RCV000952688]benign1131074593107459Humanname
150482526CV1261635single nucleotide variantNM_020896.4(OSBPL5):c.-22+20G>Cnot provided [RCV001686238]benign1131651963165196Humanname
15160971CV730763single nucleotide variantNM_020896.4(OSBPL5):c.1059+7G>Cnot provided [RCV000881485]benign1131072563107256Humanname
15151744CV779444single nucleotide variantNM_020896.4(OSBPL5):c.1522+9G>Anot provided [RCV000968205]benign1131015943101594Humanname
15157128CV779527single nucleotide variantNM_020896.4(OSBPL5):c.1245-6T>Cnot provided [RCV000969250]benign1131033263103326Humanname
156370837CV2204341single nucleotide variantNM_020896.4(OSBPL5):c.25C>T (p.Arg9Cys)not specified [RCV004079164]uncertain significance1131291243129124Humanname
329400655CV2438618single nucleotide variantNM_020896.4(OSBPL5):c.16T>A (p.Phe6Ile)not specified [RCV004261789]uncertain significance1131291333129133Humanname
401766794CV2680151single nucleotide variantNM_020896.4(OSBPL5):c.13G>C (p.Ala5Pro)not specified [RCV004286634]uncertain significance1131291363129136Humanname
401778049CV2704567single nucleotide variantNM_020896.4(OSBPL5):c.26G>A (p.Arg9His)not specified [RCV004313296]uncertain significance1131291233129123Humanname
155997345CV2250543single nucleotide variantNM_020896.4(OSBPL5):c.77G>C (p.Arg26Pro)not specified [RCV004127401]uncertain significance1131290723129072Humanname
156384238CV2371339single nucleotide variantNM_020896.4(OSBPL5):c.29G>A (p.Arg10His)not specified [RCV004223347]uncertain significance1131291203129120Humanname
405784012CV3374233single nucleotide variantNM_020896.4(OSBPL5):c.59C>A (p.Pro20His)not specified [RCV004504446]uncertain significance1131290903129090Humanname
597735944CV3567682single nucleotide variantNM_020896.4(OSBPL5):c.79A>G (p.Lys27Glu)not specified [RCV004843621]uncertain significance1131290703129070Humanname
156274232CV2279718single nucleotide variantNM_020896.4(OSBPL5):c.105C>A (p.Ser35Arg)not specified [RCV004144335]uncertain significance1131290443129044Humanname
156084009CV2343169single nucleotide variantNM_020896.4(OSBPL5):c.188C>T (p.Pro63Leu)not specified [RCV004194801]uncertain significance1131265043126504Humanname
155999312CV2378572single nucleotide variantNM_020896.4(OSBPL5):c.117G>C (p.Glu39Asp)not specified [RCV004229008]uncertain significance1131290323129032Humanname
401904213CV2816360single nucleotide variantNM_020896.4(OSBPL5):c.1842C>T (p.Ser614=)not provided [RCV003394769]likely benign1130936313093631Humanname
597655903CV3567693single nucleotide variantNM_020896.4(OSBPL5):c.205A>C (p.Thr69Pro)not specified [RCV004827451]uncertain significance1131264873126487Humanname
597655913CV3567696single nucleotide variantNM_020896.4(OSBPL5):c.161C>A (p.Pro54Gln)not specified [RCV004827452]uncertain significance1131265313126531Humanname
15157122CV712784single nucleotide variantNM_020896.4(OSBPL5):c.1389G>A (p.Pro463=)not provided [RCV000969249]benign1131022193102219Humanname
15146596CV712785single nucleotide variantNM_020896.4(OSBPL5):c.161C>T (p.Pro54Leu)not provided [RCV000967188]benign1131265313126531Humanname
15197176CV724399single nucleotide variantNM_020896.4(OSBPL5):c.1443C>T (p.Pro481=)not provided [RCV000889982]benign1131016823101682Humanname
156248009CV2203025single nucleotide variantNM_020896.4(OSBPL5):c.682G>A (p.Glu228Lys)not specified [RCV004069277]uncertain significance1131195563119556Humanname
156236934CV2235616single nucleotide variantNM_020896.4(OSBPL5):c.977G>T (p.Gly326Val)not specified [RCV004111769]uncertain significance1131073453107345Humanname
156281899CV2252365single nucleotide variantNM_020896.4(OSBPL5):c.892G>C (p.Asp298His)not specified [RCV004116211]uncertain significance1131074303107430Humanname
155944100CV2271544single nucleotide variantNM_020896.4(OSBPL5):c.379G>T (p.Val127Phe)not specified [RCV004128633]uncertain significance1131220203122020Humanname
156349737CV2305703single nucleotide variantNM_020896.4(OSBPL5):c.695G>A (p.Arg232His)not specified [RCV004167524]uncertain significance1131079423107942Humanname
156099410CV2306541single nucleotide variantNM_020896.4(OSBPL5):c.305A>G (p.Gln102Arg)not specified [RCV004157150]uncertain significance1131220943122094Humanname
155959262CV2313889single nucleotide variantNM_020896.4(OSBPL5):c.961C>T (p.Arg321Trp)not specified [RCV004164201]uncertain significance1131073613107361Humanname
156178419CV2318083single nucleotide variantNM_020896.4(OSBPL5):c.848C>T (p.Pro283Leu)not specified [RCV004177178]uncertain significance1131077893107789Humanname
156287830CV2327357single nucleotide variantNM_020896.4(OSBPL5):c.358G>A (p.Ala120Thr)not specified [RCV004174791]uncertain significance1131220413122041Humanname
156072652CV2331529single nucleotide variantNM_020896.4(OSBPL5):c.458T>C (p.Val153Ala)not specified [RCV004182132]uncertain significance1131205693120569Humanname
156335127CV2333483single nucleotide variantNM_020896.4(OSBPL5):c.950A>G (p.Gln317Arg)not specified [RCV004190180]uncertain significance1131073723107372Humanname
401736869CV2717816single nucleotide variantNM_020896.4(OSBPL5):c.652A>G (p.Ser218Gly)not specified [RCV004321798]uncertain significance1131195863119586Humanname
405783999CV3374231single nucleotide variantNM_020896.4(OSBPL5):c.320G>A (p.Arg107Gln)not specified [RCV004504444]uncertain significance1131220793122079Humanname
405784005CV3374232single nucleotide variantNM_020896.4(OSBPL5):c.457G>T (p.Val153Leu)not specified [RCV004504445]uncertain significance1131205703120570Humanname
405784018CV3374234single nucleotide variantNM_020896.4(OSBPL5):c.674C>T (p.Ala225Val)not specified [RCV004504447]uncertain significance1131195643119564Humanname
405784023CV3374235single nucleotide variantNM_020896.4(OSBPL5):c.764C>G (p.Pro255Arg)not specified [RCV004504448]uncertain significance1131078733107873Humanname
405784029CV3374236single nucleotide variantNM_020896.4(OSBPL5):c.962G>A (p.Arg321Gln)not specified [RCV004504449]uncertain significance1131073603107360Humanname
407511306CV3459668single nucleotide variantNM_020896.4(OSBPL5):c.770G>A (p.Arg257Gln)not specified [RCV004648007]uncertain significance1131078673107867Humanname
407511312CV3459671single nucleotide variantNM_020896.4(OSBPL5):c.309G>T (p.Lys103Asn)not specified [RCV004648009]uncertain significance1131220903122090Humanname
597735959CV3567685single nucleotide variantNM_020896.4(OSBPL5):c.344G>A (p.Arg115Gln)not specified [RCV004843624]uncertain significance1131220553122055Humanname
597735965CV3567686single nucleotide variantNM_020896.4(OSBPL5):c.473A>G (p.Lys158Arg)not specified [RCV004843625]uncertain significance1131205543120554Humanname
597735982CV3567690single nucleotide variantNM_020896.4(OSBPL5):c.496G>C (p.Val166Leu)not specified [RCV004843628]uncertain significance1131205313120531Humanname
597736423CV3567695single nucleotide variantNM_020896.4(OSBPL5):c.890A>G (p.Asn297Ser)not specified [RCV004843632]uncertain significance1131074323107432Humanname
598161754CV3998994single nucleotide variantNM_020896.4(OSBPL5):c.369C>A (p.Asp123Glu)not specified [RCV005390684]uncertain significance1131220303122030Humanname
598161758CV3998995single nucleotide variantNM_020896.4(OSBPL5):c.337G>A (p.Ala113Thr)not specified [RCV005390685]uncertain significance1131220623122062Humanname
598161778CV3998999single nucleotide variantNM_020896.4(OSBPL5):c.743T>G (p.Leu248Arg)not specified [RCV005390689]uncertain significance1131078943107894Humanname
598161783CV3999000single nucleotide variantNM_020896.4(OSBPL5):c.838A>G (p.Thr280Ala)not specified [RCV005390690]likely benign1131077993107799Humanname
156076002CV2198139single nucleotide variantNM_020896.4(OSBPL5):c.2470T>C (p.Ser824Pro)not specified [RCV004079728]uncertain significance1130898773089877Humanname
156384719CV2231169single nucleotide variantNM_020896.4(OSBPL5):c.2582G>T (p.Trp861Leu)not specified [RCV004094375]uncertain significance1130882633088263Humanname
155921672CV2240559single nucleotide variantNM_020896.4(OSBPL5):c.1327G>C (p.Gly443Arg)not specified [RCV004119214]uncertain significance1131022813102281Humanname
156029863CV2278666single nucleotide variantNM_020896.4(OSBPL5):c.2308G>A (p.Gly770Ser)not specified [RCV004134867]uncertain significance1130906483090648Humanname
155939594CV2293936single nucleotide variantNM_020896.4(OSBPL5):c.1730G>A (p.Gly577Glu)not specified [RCV004155479]uncertain significance1130938253093825Humanname
155956235CV2304005single nucleotide variantNM_020896.4(OSBPL5):c.1162G>C (p.Val388Leu)not specified [RCV004170060]uncertain significance1131042753104275Humanname
155912327CV2308748single nucleotide variantNM_020896.4(OSBPL5):c.2626C>T (p.His876Tyr)not specified [RCV004169070]likely benign1130882193088219Humanname
156284859CV2317583single nucleotide variantNM_020896.4(OSBPL5):c.1202A>G (p.Asn401Ser)not specified [RCV004172534]uncertain significance1131042353104235Humanname
156051661CV2336679single nucleotide variantNM_020896.4(OSBPL5):c.2101A>T (p.Ile701Phe)not specified [RCV004196919]uncertain significance1130928983092898Humanname
156052166CV2336716single nucleotide variantNM_020896.4(OSBPL5):c.1733G>A (p.Gly578Asp)not specified [RCV004196956]uncertain significance1130938223093822Humanname
155923462CV2336841single nucleotide variantNM_020896.4(OSBPL5):c.2033G>A (p.Arg678Gln)not specified [RCV004190461]uncertain significance1130929663092966Humanname
156339370CV2351572single nucleotide variantNM_020896.4(OSBPL5):c.2420G>A (p.Arg807Gln)not specified [RCV004195293]uncertain significance1130899273089927Humanname
155931058CV2362444single nucleotide variantNM_020896.4(OSBPL5):c.1292G>A (p.Arg431Gln)not specified [RCV004213065]likely benign1131032733103273Humanname
155911356CV2362456single nucleotide variantNM_020896.4(OSBPL5):c.2126A>G (p.Tyr709Cys)not specified [RCV004213077]uncertain significance1130928733092873Humanname
156338975CV2370844single nucleotide variantNM_020896.4(OSBPL5):c.1013G>A (p.Arg338Gln)not specified [RCV004209234]uncertain significance1131073093107309Humanname
155934009CV2372377single nucleotide variantNM_020896.4(OSBPL5):c.2038C>T (p.Arg680Trp)not specified [RCV004217144]uncertain significance1130929613092961Humanname
156073395CV2376899single nucleotide variantNM_020896.4(OSBPL5):c.1843G>A (p.Gly615Arg)not specified [RCV004229594]uncertain significance1130936303093630Humanname
156184170CV2377696single nucleotide variantNM_020896.4(OSBPL5):c.1444G>A (p.Val482Met)not specified [RCV004228241]uncertain significance1131016813101681Humanname
156106144CV2387060single nucleotide variantNM_020896.4(OSBPL5):c.1931A>G (p.Glu644Gly)not specified [RCV004226804]uncertain significance1130935423093542Humanname
156265348CV2389052single nucleotide variantNM_020896.4(OSBPL5):c.2401G>T (p.Gly801Cys)not specified [RCV004235390]uncertain significance1130899463089946Humanname
156198829CV2392206single nucleotide variantNM_020896.4(OSBPL5):c.1942G>A (p.Glu648Lys)not specified [RCV004243820]uncertain significance1130935313093531Humanname
156222690CV2394716single nucleotide variantNM_020896.4(OSBPL5):c.2435C>T (p.Ala812Val)not specified [RCV004234394]uncertain significance1130899123089912Humanname
156186976CV2397789single nucleotide variantNM_020896.4(OSBPL5):c.2441G>A (p.Arg814Gln)not specified [RCV004239265]uncertain significance1130899063089906Humanname
329382851CV2424575single nucleotide variantNM_020896.4(OSBPL5):c.2212G>A (p.Val738Met)not specified [RCV004254076]likely benign1130924793092479Humanname
329375302CV2440890single nucleotide variantNM_020896.4(OSBPL5):c.1928C>T (p.Thr643Met)not specified [RCV004261285]uncertain significance1130935453093545Humanname
329400381CV2441595single nucleotide variantNM_020896.4(OSBPL5):c.1842C>A (p.Ser614Arg)not specified [RCV004259421]likely benign1130936313093631Humanname
329380163CV2444247single nucleotide variantNM_020896.4(OSBPL5):c.2105C>T (p.Thr702Ile)not specified [RCV004263016]uncertain significance1130928943092894Humanname
329355805CV2445642single nucleotide variantNM_020896.4(OSBPL5):c.2420G>T (p.Arg807Leu)not specified [RCV004259724]uncertain significance1130899273089927Humanname
329395152CV2458168single nucleotide variantNM_020896.4(OSBPL5):c.2123G>T (p.Arg708Leu)not specified [RCV004265840]uncertain significance1130928763092876Humanname
329395436CV2458368single nucleotide variantNM_020896.4(OSBPL5):c.2063T>C (p.Leu688Pro)not specified [RCV004266006]uncertain significance1130929363092936Humanname
401718993CV2679377single nucleotide variantNM_020896.4(OSBPL5):c.2279G>A (p.Arg760Gln)not specified [RCV004285908]uncertain significance1130906773090677Humanname
401743800CV2688030single nucleotide variantNM_020896.4(OSBPL5):c.2324C>T (p.Thr775Met)not specified [RCV004305104]uncertain significance1130906323090632Humanname
401783382CV2723513single nucleotide variantNM_020896.4(OSBPL5):c.2051G>A (p.Arg684Gln)not specified [RCV004323919]uncertain significance1130929483092948Humanname
401783703CV2723861single nucleotide variantNM_020896.4(OSBPL5):c.1959C>A (p.His653Gln)not specified [RCV004326001]uncertain significance1130930403093040Humanname
401890345CV2755802single nucleotide variantNM_020896.4(OSBPL5):c.2437C>T (p.Arg813Trp)not specified [RCV004342175]uncertain significance1130899103089910Humanname
401889194CV2761914single nucleotide variantNM_020896.4(OSBPL5):c.1815G>C (p.Arg605Ser)not specified [RCV004339546]uncertain significance1130936583093658Humanname
401863382CV2765678single nucleotide variantNM_020896.4(OSBPL5):c.2146G>A (p.Asp716Asn)not specified [RCV004335687]uncertain significance1130925453092545Humanname
401885148CV2767999single nucleotide variantNM_020896.4(OSBPL5):c.1873G>A (p.Gly625Arg)not specified [RCV004348244]uncertain significance1130936003093600Humanname
405291014CV3203975single nucleotide variantNM_020896.4(OSBPL5):c.2123G>A (p.Arg708Gln)OSBPL5-related disorder [RCV003927368]likely benign1130928763092876Humanname , trait , alternate_id
405783906CV3374217single nucleotide variantNM_020896.4(OSBPL5):c.1007C>T (p.Pro336Leu)not specified [RCV004504430]uncertain significance1131073153107315Humanname
405783912CV3374218single nucleotide variantNM_020896.4(OSBPL5):c.1070C>T (p.Ala357Val)not specified [RCV004504431]uncertain significance1131043673104367Humanname
405783919CV3374219single nucleotide variantNM_020896.4(OSBPL5):c.1176C>G (p.Phe392Leu)not specified [RCV004504432]uncertain significance1131042613104261Humanname
405783925CV3374220single nucleotide variantNM_020896.4(OSBPL5):c.1187C>T (p.Pro396Leu)not specified [RCV004504433]uncertain significance1131042503104250Humanname
405783933CV3374221single nucleotide variantNM_020896.4(OSBPL5):c.1384C>T (p.His462Tyr)not specified [RCV004504434]uncertain significance1131022243102224Humanname
405783939CV3374222single nucleotide variantNM_020896.4(OSBPL5):c.1459G>A (p.Val487Ile)not specified [RCV004504435]uncertain significance1131016663101666Humanname
405783948CV3374223single nucleotide variantNM_020896.4(OSBPL5):c.1849A>G (p.Ser617Gly)not specified [RCV004504436]uncertain significance1130936243093624Humanname
405783960CV3374225single nucleotide variantNM_020896.4(OSBPL5):c.2191C>T (p.Arg731Trp)not specified [RCV004504438]uncertain significance1130925003092500Humanname
405783967CV3374226single nucleotide variantNM_020896.4(OSBPL5):c.2383G>A (p.Gly795Ser)not specified [RCV004504439]uncertain significance1130905733090573Humanname
405783973CV3374227single nucleotide variantNM_020896.4(OSBPL5):c.2458G>A (p.Glu820Lys)not specified [RCV004504440]uncertain significance1130898893089889Humanname
405783980CV3374228single nucleotide variantNM_020896.4(OSBPL5):c.2488C>G (p.Gln830Glu)not specified [RCV004504441]uncertain significance1130898593089859Humanname
405783986CV3374229single nucleotide variantNM_020896.4(OSBPL5):c.2528C>T (p.Thr843Met)not specified [RCV004504442]uncertain significance1130883173088317Humanname
407469806CV3459669single nucleotide variantNM_020896.4(OSBPL5):c.2440C>T (p.Arg814Trp)not specified [RCV004661878]uncertain significance1130899073089907Humanname
407511309CV3459670single nucleotide variantNM_020896.4(OSBPL5):c.2065A>G (p.Met689Val)not specified [RCV004648008]uncertain significance1130929343092934Humanname
407469812CV3459672single nucleotide variantNM_020896.4(OSBPL5):c.1757C>T (p.Ser586Leu)not specified [RCV004661879]uncertain significance1130937983093798Humanname
597735949CV3567683single nucleotide variantNM_020896.4(OSBPL5):c.2218C>A (p.Arg740Ser)not specified [RCV004843622]uncertain significance1130924733092473Humanname
597735955CV3567684single nucleotide variantNM_020896.4(OSBPL5):c.2273A>G (p.Asp758Gly)not specified [RCV004843623]uncertain significance1130906833090683Humanname
597735971CV3567687single nucleotide variantNM_020896.4(OSBPL5):c.2032C>T (p.Arg678Trp)not specified [RCV004843626]uncertain significance1130929673092967Humanname
597655892CV3567688single nucleotide variantNM_020896.4(OSBPL5):c.1402C>T (p.Arg468Cys)not specified [RCV004827450]uncertain significance1131022063102206Humanname
597735977CV3567689single nucleotide variantNM_020896.4(OSBPL5):c.2438G>A (p.Arg813Gln)not specified [RCV004843627]uncertain significance1130899093089909Humanname
597735988CV3567691single nucleotide variantNM_020896.4(OSBPL5):c.1116G>T (p.Trp372Cys)not specified [RCV004843629]uncertain significance1131043213104321Humanname
597736433CV3567692single nucleotide variantNM_020896.4(OSBPL5):c.2576G>A (p.Arg859Gln)not specified [RCV004843630]uncertain significance1130882693088269Humanname
597736428CV3567694single nucleotide variantNM_020896.4(OSBPL5):c.1810G>T (p.Asp604Tyr)not specified [RCV004843631]uncertain significance1130936633093663Humanname
597736417CV3567697single nucleotide variantNM_020896.4(OSBPL5):c.1362G>T (p.Glu454Asp)not specified [RCV004843633]uncertain significance1131022463102246Humanname
598161738CV3998991single nucleotide variantNM_020896.4(OSBPL5):c.1388C>T (p.Pro463Leu)not specified [RCV005390681]uncertain significance1131022203102220Humanname
598161742CV3998992single nucleotide variantNM_020896.4(OSBPL5):c.2246G>A (p.Gly749Glu)not specified [RCV005390682]uncertain significance1130924453092445Humanname
598161749CV3998993single nucleotide variantNM_020896.4(OSBPL5):c.1156C>T (p.Arg386Cys)not specified [RCV005390683]uncertain significance1131042813104281Humanname
598161763CV3998996single nucleotide variantNM_020896.4(OSBPL5):c.1571T>C (p.Leu524Pro)not specified [RCV005390686]uncertain significance1131002083100208Humanname
598161768CV3998997single nucleotide variantNM_020896.4(OSBPL5):c.1377C>G (p.Cys459Trp)not specified [RCV005390687]uncertain significance1131022313102231Humanname
598161772CV3998998single nucleotide variantNM_020896.4(OSBPL5):c.2045G>A (p.Arg682His)not specified [RCV005390688]uncertain significance1130929543092954Humanname
598161788CV3999001single nucleotide variantNM_020896.4(OSBPL5):c.1486A>G (p.Ile496Val)not specified [RCV005390691]uncertain significance1131016393101639Humanname
15196109CV724398single nucleotide variantNM_020896.4(OSBPL5):c.2225C>T (p.Thr742Ile)not provided [RCV000889688]benign1130924663092466Humanname
15156620CV724400single nucleotide variantNM_020896.4(OSBPL5):c.1013G>C (p.Arg338Pro)not provided [RCV000880666]benign1131073093107309Humanname