Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912633(A;A)
Make rs121912633(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109792396
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912633
ebirs121912633
HLIrs121912633
Exacrs121912633
Varsomers121912633
Maprs121912633
PheGenIrs121912633
hapmaprs121912633
1000 genomesrs121912633
hgdprs121912633
ensemblrs121912633
gopubmedrs121912633
geneviewrs121912633
scholarrs121912633
googlers121912633
pharmgkbrs121912633
gwascentralrs121912633
openSNPrs121912633
23andMers121912633
23andMe allrs121912633
SNP Nexus

SNPshotrs121912633
SNPdbers121912633
MSV3drs121912633
GWAS Ctlgrs121912633
GMAF0.0004591
Max Magnitude0
OMIM605427
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912633(A;A)
Alt rs121912633(A;A)
Reference rs121912633(G;G)
Significance Pathogenic
Disease Brachyrachia (short spine dysplasia) Skeletal dysplasia Neuromuscular Diseases
Variation info
Gene TRPV4
CLNDBN Brachyrachia (short spine dysplasia) Skeletal dysplasia Neuromuscular Diseases
Reversed 1
HGVS NC_000012.11:g.110230201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005281.3, RCV000202464.1, RCV000202535.1,