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

rs515726159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726159(A;G)
Make rs515726159(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109792689
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726159
dbSNP (classic)rs515726159
ClinGenrs515726159
ebirs515726159
HLIrs515726159
Exacrs515726159
Gnomadrs515726159
Varsomers515726159
LitVarrs515726159
Maprs515726159
PheGenIrs515726159
Biobankrs515726159
1000 genomesrs515726159
hgdprs515726159
ensemblrs515726159
geneviewrs515726159
scholarrs515726159
googlers515726159
pharmgkbrs515726159
gwascentralrs515726159
openSNPrs515726159
23andMers515726159
SNPshotrs515726159
SNPdbers515726159
MSV3drs515726159
GWAS Ctlgrs515726159
Max Magnitude0
ClinVar
Risk rs515726159(G;G)
Alt rs515726159(G;G)
Reference Rs515726159(A;A)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110230494A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000202474.1,