rs515726171

Orientation

plus

Stabilized

plus

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

Make rs515726171(C;C)

Make rs515726171(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

109798883

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs515726171
dbSNP (classic)	rs515726171
ClinGen	rs515726171
ebi	rs515726171
HLI	rs515726171
Exac	rs515726171
Gnomad	rs515726171
Varsome	rs515726171
LitVar	rs515726171
Map	rs515726171
PheGenI	rs515726171
Biobank	rs515726171
1000 genomes	rs515726171
hgdp	rs515726171
ensembl	rs515726171
geneview	rs515726171
scholar	rs515726171
google	rs515726171
pharmgkb	rs515726171
gwascentral	rs515726171
openSNP	rs515726171
23andMe	rs515726171
SNPshot	rs515726171
SNPdbe	rs515726171
MSV3d	rs515726171
GWAS Ctlg	rs515726171

Max Magnitude

0

ClinVar
Risk	rs515726171(C;C)
Alt	rs515726171(C;C)
Reference	Rs515726171(T;T)
Significance	Pathogenic
Disease	Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Skeletal dysplasia
Reversed	0
HGVS	NC_000012.11:g.110236688T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202471.1,