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rs121912632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912632(A;A)
Make rs121912632(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109792407
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912632
ebirs121912632
HLIrs121912632
Exacrs121912632
Varsomers121912632
Maprs121912632
PheGenIrs121912632
hapmaprs121912632
1000 genomesrs121912632
hgdprs121912632
ensemblrs121912632
gopubmedrs121912632
geneviewrs121912632
scholarrs121912632
googlers121912632
pharmgkbrs121912632
gwascentralrs121912632
openSNPrs121912632
23andMers121912632
23andMe allrs121912632
SNP Nexus

SNPshotrs121912632
SNPdbers121912632
MSV3drs121912632
GWAS Ctlgrs121912632
Max Magnitude0
OMIM605427
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912632(A;A)
Alt rs121912632(A;A)
Reference rs121912632(G;G)
Significance Pathogenic
Disease Brachyrachia (short spine dysplasia) Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Brachyrachia (short spine dysplasia) Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110230212C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005280.3, RCV000202519.1,