rs515726161

Orientation

plus

Stabilized

plus

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

Make rs515726161(C;C)

Make rs515726161(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

109792664

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs515726161
dbSNP (classic)	rs515726161
ClinGen	rs515726161
ebi	rs515726161
HLI	rs515726161
Exac	rs515726161
Gnomad	rs515726161
Varsome	rs515726161
LitVar	rs515726161
Map	rs515726161
PheGenI	rs515726161
Biobank	rs515726161
1000 genomes	rs515726161
hgdp	rs515726161
ensembl	rs515726161
geneview	rs515726161
scholar	rs515726161
google	rs515726161
pharmgkb	rs515726161
gwascentral	rs515726161
openSNP	rs515726161
23andMe	rs515726161
SNPshot	rs515726161
SNPdbe	rs515726161
MSV3d	rs515726161
GWAS Ctlg	rs515726161

Max Magnitude

0

ClinVar
Risk	rs515726161(C;C)
Alt	rs515726161(C;C)
Reference	Rs515726161(G;G)
Significance	Pathogenic
Disease	Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Skeletal dysplasia
Reversed	0
HGVS	NC_000012.11:g.110230469G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202498.1,