rs202127176 Rat Genome Database

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Variant: rs202127176 -  Homo sapiens

RGD ID: 41405688
RS ID: rs202127176
ClinVar ID: CV982025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIEZO1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,782,205
GRCh38 16 88,715,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1137t1:c.7374C>G
NM_001142864.4:c.7374C>G
LRG_1137:g.74424C>G
NG_042229.1:g.74424C>G
More... 		03/01/2021 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Experimental Data Annotations     Click to see Annotation Detail View

Vertebrate Trait

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS596739_H GCST90264172 Surgical hip osteoarthritis 20,221 European ancestry cases, 626,610 European ancestry controls C 0.002 7E-8 7.155 rs202127176 0.44 osteoarthritis, hip (EFO:1000786)
 PMID:36376028
GWAS638792_H GCST90002386 High light scatter reticulocyte percentage of red cells 408,112 British individuals C 0.00144100000000003 9E-28 27.046 rs202127176 0.32131782 reticulocyte measurement (EFO:0010700)
 PMID:32888494
GWAS641773_H GCST90002385 High light scatter reticulocyte count 408,112 British individuals C 0.00144100000000003 3E-33 32.523 rs202127176 0.35324034 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS664710_H GCST90002391 Mean corpuscular hemoglobin concentration 408,112 British individuals C 0.00145600000000001 7E-14 13.155 rs202127176 0.251821 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888494
GWAS748412_H GCST90002406 Reticulocyte fraction of red cells 408,112 British individuals C 0.00143599999999999 3E-29 28.523 rs202127176 0.33201006 reticulocyte measurement (EFO:0010700)
 PMID:32888494
GWAS752520_H GCST90002405 Reticulocyte count 408,112 British individuals C 0.00143700000000002 6E-36 35.222 rs202127176 0.370475 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS880478_H GCST90025973 Bilirubin levels 436,055 European ancestry individuals ? NR 4E-17 16.398 rs202127176 0.198669 bilirubin measurement (EFO:0004570)
 PMID:34226706
None Available GCST90435412 Height 404,900 European ancestry individuals ? NR 1E-20 20 rs202127176 0.210207 body height (EFO:0004339)
 PMID:39134668

Variant Details
Variant Transcripts
Gene Symbol:PIEZO1
Accession:NM_001142864
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 2458
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLLRALLGLSLLFLVAHLALQIC
LHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIRLVAPDLGILVVSSVCLGICGRLARNTRQSPHPRELDDDER
DVDASPTAGLQEAATLAPTRRSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLLLFLALCTWWACHFPI
STRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPHALVLNTGLDWPVYASPGVLL
LLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQWPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVR
PKRAEPREASPLHSLGHLIMDQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCL
RYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLKWAESPAALTEVTVADTEPTR
TQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVYKIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLV
LIAVYTFQFQDFPAYWRNLTGFTDEQLGDLGLEQFSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTR
LPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLGVATPHQATQVPEGAAKWGLVAERLLELAAGFSDVLS
RVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVLWAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQ
EYSSNCTEPFPNSTNLLPTEISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAP
LPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGCWLVAILTRRHRQAIARLWPN
YCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSALIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAER
TEEWQRMAGVNTDRLEPLRGEPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTVKGYYDPKEMMDRDQDCLLPV
EEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALLASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAK
QEKHRQGRVDRSRPQDTLGPKDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSA
QSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGRSHVVQRVLSTAQFLWMLGQA
LVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEVHRGVLDQLYTSQAEATLPGPTEAPNAPSTVSSGLGAEEPL
SSMTDDMGSPLSTGYHTRSGSEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAELFAEGQGRALRLLRAVY
QCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIAVVVKYLFQFGFFPWNSHVVL
RRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQLLCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTED
HIQVEARVGPTDGTPEPQVELRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRV
RAAGRRLQGFCLSLAQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFWAFGKHSAATDITSSLSDDQV
PEAFLVMLLIQFSTMVVDRALYLRKTVLGKLAFQVALVLAIHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQ
IRCGYPTRILGNFLTKKYNHLNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYP
QPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYEPLFTMSAQQPSIIPFTAQAY
EELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRISPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYA
NEKHMLALAPNSTARRQLASLLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGLFSEISHSIMFEELPCVDRILKL
CQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREKE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001508788 CLINVAR
dbSNP (RS) rs202127176 CLINVAR
GWAS Catalog GCST90002385 GWAS Catalog
  GCST90002386 GWAS Catalog
  GCST90002391 GWAS Catalog
  GCST90002405 GWAS Catalog
  GCST90002406 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene PIEZO1 CLINVAR
OMIM 611184 CLINVAR