rs515726163

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs515726163(A;G)

Make rs515726163(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

109792401

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs515726163
dbSNP (classic)	rs515726163
ClinGen	rs515726163
ebi	rs515726163
HLI	rs515726163
Exac	rs515726163
Gnomad	rs515726163
Varsome	rs515726163
LitVar	rs515726163
Map	rs515726163
PheGenI	rs515726163
Biobank	rs515726163
1000 genomes	rs515726163
hgdp	rs515726163
ensembl	rs515726163
geneview	rs515726163
scholar	rs515726163
google	rs515726163
pharmgkb	rs515726163
gwascentral	rs515726163
openSNP	rs515726163
23andMe	rs515726163
SNPshot	rs515726163
SNPdbe	rs515726163
MSV3d	rs515726163
GWAS Ctlg	rs515726163

Max Magnitude

0

ClinVar
Risk	rs515726163(G;G)
Alt	rs515726163(G;G)
Reference	Rs515726163(A;A)
Significance	Pathogenic
Disease	Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Skeletal dysplasia
Reversed	0
HGVS	NC_000012.11:g.110230206A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202495.1,