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

rs515726154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs515726154(-;-)
Make rs515726154(-;AGA)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109794406
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726154
dbSNP (classic)rs515726154
ClinGenrs515726154
ebirs515726154
HLIrs515726154
Exacrs515726154
Gnomadrs515726154
Varsomers515726154
LitVarrs515726154
Maprs515726154
PheGenIrs515726154
Biobankrs515726154
1000 genomesrs515726154
hgdprs515726154
ensemblrs515726154
geneviewrs515726154
scholarrs515726154
googlers515726154
pharmgkbrs515726154
gwascentralrs515726154
openSNPrs515726154
23andMers515726154
SNPshotrs515726154
SNPdbers515726154
MSV3drs515726154
GWAS Ctlgrs515726154
Max Magnitude0
ClinVar
Risk rs515726154(-;-)
Alt rs515726154(-;-)
Reference Rs515726154(AGA;AGA)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110232211_110232213delAGA
CLNSRC
CLNACC RCV000202564.1,