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rs515726158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726158(A;G)
Make rs515726158(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109792702
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726158
dbSNP (classic)rs515726158
ClinGenrs515726158
ebirs515726158
HLIrs515726158
Exacrs515726158
Gnomadrs515726158
Varsomers515726158
LitVarrs515726158
Maprs515726158
PheGenIrs515726158
Biobankrs515726158
1000 genomesrs515726158
hgdprs515726158
ensemblrs515726158
geneviewrs515726158
scholarrs515726158
googlers515726158
pharmgkbrs515726158
gwascentralrs515726158
openSNPrs515726158
23andMers515726158
SNPshotrs515726158
SNPdbers515726158
MSV3drs515726158
GWAS Ctlgrs515726158
Max Magnitude0
ClinVar
Risk rs515726158(G;G)
Alt rs515726158(G;G)
Reference Rs515726158(A;A)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110230507A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000202527.1,