Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

66 records found for search term Efs
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156397925CV2193962single nucleotide variantNM_005864.4(EFS):c.31C>T (p.Arg11Trp)not specified [RCV004074690]uncertain significance142336082123360821Humanname
156142414CV2386075single nucleotide variantNM_005864.4(EFS):c.97C>T (p.Arg33Trp)not specified [RCV004229133]uncertain significance142336075523360755Humanname
405716390CV3241703single nucleotide variantNM_005864.4(EFS):c.59C>G (p.Ser20Cys)not specified [RCV004377440]uncertain significance142336079323360793Humanname
15191779CV702818single nucleotide variantNM_005864.4(EFS):c.423C>T (p.Pro141=)not provided [RCV000954877]benign142336015623360156Humanname
156063386CV2228726single nucleotide variantNM_005864.4(EFS):c.286G>A (p.Glu96Lys)not specified [RCV004093202]uncertain significance142336056623360566Humanname
155918915CV2279315single nucleotide variantNM_005864.4(EFS):c.157G>A (p.Gly53Ser)not specified [RCV004139831]uncertain significance142336069523360695Humanname
329355705CV2445585single nucleotide variantNM_005864.4(EFS):c.133G>A (p.Gly45Ser)not specified [RCV004259672]uncertain significance142336071923360719Humanname
401743398CV2687942single nucleotide variantNM_005864.4(EFS):c.181A>G (p.Asn61Asp)not specified [RCV004305028]uncertain significance142336067123360671Humanname
405716359CV3241699single nucleotide variantNM_005864.4(EFS):c.119C>T (p.Ala40Val)not specified [RCV004377436]uncertain significance142336073323360733Humanname
156094054CV2252914single nucleotide variantNM_005864.4(EFS):c.883C>T (p.Arg295Trp)not specified [RCV004120740]uncertain significance142335959523359595Humanname
156062586CV2277240single nucleotide variantNM_005864.4(EFS):c.875A>T (p.His292Leu)not specified [RCV004142862]uncertain significance142335960323359603Humanname
156101336CV2291357single nucleotide variantNM_005864.4(EFS):c.635C>T (p.Pro212Leu)not specified [RCV004162044]uncertain significance142335984323359843Humanname
156349640CV2305673single nucleotide variantNM_005864.4(EFS):c.538C>T (p.Pro180Ser)not specified [RCV004167501]uncertain significance142335994023359940Humanname
156382988CV2363092single nucleotide variantNM_005864.4(EFS):c.641C>A (p.Pro214His)not specified [RCV004211218]uncertain significance142335983723359837Humanname
156251922CV2368930single nucleotide variantNM_005864.4(EFS):c.629G>A (p.Arg210Gln)not specified [RCV004207883]uncertain significance142335984923359849Humanname
156346120CV2373026single nucleotide variantNM_005864.4(EFS):c.557C>T (p.Ala186Val)not specified [RCV004224053]uncertain significance142335992123359921Humanname
156044776CV2381655single nucleotide variantNM_005864.4(EFS):c.692A>G (p.Asn231Ser)not specified [RCV004232126]uncertain significance142335978623359786Humanname
329371551CV2432009single nucleotide variantNM_005864.4(EFS):c.784G>T (p.Ala262Ser)not specified [RCV004249161]uncertain significance142335969423359694Humanname
329380829CV2440553single nucleotide variantNM_005864.4(EFS):c.910C>T (p.Arg304Cys)not specified [RCV004256467]uncertain significance142335956823359568Humanname
329400927CV2445883single nucleotide variantNM_005864.4(EFS):c.859A>C (p.Ser287Arg)not specified [RCV004270498]uncertain significance142335961923359619Humanname
329359629CV2461580single nucleotide variantNM_005864.4(EFS):c.911G>A (p.Arg304His)not specified [RCV004269761]uncertain significance142335956723359567Humanname
329380564CV2466689single nucleotide variantNM_005864.4(EFS):c.499G>A (p.Ala167Thr)not specified [RCV004276195]uncertain significance142335997923359979Humanname
401760727CV2706067single nucleotide variantNM_005864.4(EFS):c.742A>T (p.Thr248Ser)not specified [RCV004314762]uncertain significance142335973623359736Humanname
401759546CV2712545single nucleotide variantNM_005864.4(EFS):c.604C>T (p.Pro202Ser)not specified [RCV004307880]uncertain significance142335987423359874Humanname
401893455CV2763435single nucleotide variantNM_005864.4(EFS):c.911G>T (p.Arg304Leu)not specified [RCV004349324]uncertain significance142335956723359567Humanname
401881727CV2767846single nucleotide variantNM_005864.4(EFS):c.429T>G (p.Asp143Glu)not specified [RCV004345961]uncertain significance142336015023360150Humanname
401880383CV2780027single nucleotide variantNM_005864.4(EFS):c.391C>T (p.Pro131Ser)not specified [RCV004355698]uncertain significance142336018823360188Humanname
401898563CV2784640single nucleotide variantNM_005864.4(EFS):c.547G>A (p.Glu183Lys)not specified [RCV004352470]uncertain significance142335993123359931Humanname
405716382CV3241702single nucleotide variantNM_005864.4(EFS):c.343C>G (p.Pro115Ala)not specified [RCV004377439]uncertain significance142336023623360236Humanname
405716403CV3241705single nucleotide variantNM_005864.4(EFS):c.889C>T (p.Pro297Ser)not specified [RCV004377442]uncertain significance142335958923359589Humanname
407497934CV3441790single nucleotide variantNM_005864.4(EFS):c.976C>T (p.Pro326Ser)not specified [RCV004622337]uncertain significance142335950223359502Humanname
407497938CV3441791single nucleotide variantNM_005864.4(EFS):c.368C>G (p.Ser123Cys)not specified [RCV004622338]uncertain significance142336021123360211Humanname
407497942CV3441792single nucleotide variantNM_005864.4(EFS):c.667C>G (p.Leu223Val)not specified [RCV004622339]uncertain significance142335981123359811Humanname
407497946CV3441793single nucleotide variantNM_005864.4(EFS):c.892T>C (p.Ser298Pro)not specified [RCV004622340]uncertain significance142335958623359586Humanname
597646163CV3664378single nucleotide variantNM_005864.4(EFS):c.775G>A (p.Gly259Arg)not specified [RCV004909925]uncertain significance142335970323359703Humanname
597646175CV3664381single nucleotide variantNM_005864.4(EFS):c.964C>T (p.Pro322Ser)not specified [RCV004909927]uncertain significance142335951423359514Humanname
597646204CV3664385single nucleotide variantNM_005864.4(EFS):c.853G>T (p.Ala285Ser)not specified [RCV004909931]uncertain significance142335962523359625Humanname
598167599CV3964900single nucleotide variantNM_005864.4(EFS):c.767C>T (p.Pro256Leu)not specified [RCV005330076]uncertain significance142335971123359711Humanname
598167606CV3964901single nucleotide variantNM_005864.4(EFS):c.658C>T (p.Pro220Ser)not specified [RCV005330077]uncertain significance142335982023359820Humanname
156381637CV2215677single nucleotide variantNM_005864.4(EFS):c.1291G>A (p.Gly431Arg)not specified [RCV004091208]uncertain significance142335762123357621Humanname
156068602CV2270930single nucleotide variantNM_005864.4(EFS):c.1004G>T (p.Arg335Leu)not specified [RCV004131967]uncertain significance142335947423359474Humanname
156289482CV2309707single nucleotide variantNM_005864.4(EFS):c.1459G>T (p.Val487Phe)not specified [RCV004160840]uncertain significance142335745323357453Humanname
156077540CV2331889single nucleotide variantNM_005864.4(EFS):c.1109A>G (p.Asn370Ser)not specified [RCV004186544]uncertain significance142335936923359369Humanname
156333074CV2335925single nucleotide variantNM_005864.4(EFS):c.1460T>C (p.Val487Ala)not specified [RCV004189536]uncertain significance142335745223357452Humanname
156162988CV2368355single nucleotide variantNM_005864.4(EFS):c.1582G>A (p.Gly528Ser)not specified [RCV004219131]uncertain significance142335733023357330Humanname
155935326CV2371774single nucleotide variantNM_005864.4(EFS):c.1483G>C (p.Ala495Pro)not specified [RCV004219436]uncertain significance142335742923357429Humanname
156133505CV2382962single nucleotide variantNM_005864.4(EFS):c.1391A>C (p.Asn464Thr)not specified [RCV004217552]uncertain significance142335752123357521Humanname
329369195CV2424755single nucleotide variantNM_005864.4(EFS):c.1411G>A (p.Val471Met)not specified [RCV004248648]uncertain significance142335750123357501Humanname
329399268CV2436219single nucleotide variantNM_005864.4(EFS):c.1448G>A (p.Arg483His)not specified [RCV004249848]uncertain significance142335746423357464Humanname
329373669CV2447321single nucleotide variantNM_005864.4(EFS):c.1046G>T (p.Gly349Val)not specified [RCV004262605]uncertain significance142335943223359432Humanname
329397449CV2456178single nucleotide variantNM_005864.4(EFS):c.1334G>A (p.Ser445Asn)not specified [RCV004273368]uncertain significance142335757823357578Humanname
401728416CV2672922single nucleotide variantNM_005864.4(EFS):c.1189C>G (p.Pro397Ala)not specified [RCV004283925]uncertain significance142335893823358938Humanname
401735627CV2692157single nucleotide variantNM_005864.4(EFS):c.1283T>C (p.Val428Ala)not specified [RCV004301856]uncertain significance142335762923357629Humanname
401752968CV2703619single nucleotide variantNM_005864.4(EFS):c.1678G>T (p.Ala560Ser)not specified [RCV004317785]uncertain significance142335723423357234Humanname
401776850CV2711432single nucleotide variantNM_005864.4(EFS):c.1674C>G (p.Ser558Arg)not specified [RCV004313180]uncertain significance142335723823357238Humanname
401776983CV2721557single nucleotide variantNM_005864.4(EFS):c.1405C>T (p.Leu469Phe)not specified [RCV004316072]uncertain significance142335750723357507Humanname
405716335CV3241697single nucleotide variantNM_005864.4(EFS):c.1003C>T (p.Arg335Trp)not specified [RCV004377434]uncertain significance142335947523359475Humanname
405716346CV3241698single nucleotide variantNM_005864.4(EFS):c.1027C>T (p.Arg343Cys)not specified [RCV004377435]uncertain significance142335945123359451Humanname
405716370CV3241700single nucleotide variantNM_005864.4(EFS):c.1400C>A (p.Pro467Gln)not specified [RCV004377437]uncertain significance142335751223357512Humanname
405716376CV3241701single nucleotide variantNM_005864.4(EFS):c.1651C>A (p.Gln551Lys)not specified [RCV004377438]uncertain significance142335726123357261Humanname
407497930CV3441789single nucleotide variantNM_005864.4(EFS):c.1028G>A (p.Arg343His)not specified [RCV004622336]uncertain significance142335945023359450Humanname
597646170CV3664379single nucleotide variantNM_005864.4(EFS):c.1555G>A (p.Val519Met)not specified [RCV004909926]uncertain significance142335735723357357Humanname
597646183CV3664382single nucleotide variantNM_005864.4(EFS):c.1682C>T (p.Pro561Leu)not specified [RCV004909928]uncertain significance142335723023357230Humanname
597646188CV3664383single nucleotide variantNM_005864.4(EFS):c.1180G>A (p.Gly394Arg)not specified [RCV004909929]uncertain significance142335894723358947Humanname
597646196CV3664384single nucleotide variantNM_005864.4(EFS):c.1295A>G (p.Asp432Gly)not specified [RCV004909930]uncertain significance142335761723357617Humanname
598167592CV3964899single nucleotide variantNM_005864.4(EFS):c.1051A>G (p.Lys351Glu)not specified [RCV005330075]uncertain significance142335942723359427Humanname