rs515726164

Orientation

plus

Stabilized

plus

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

Make rs515726164(C;T)

Make rs515726164(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

109792379

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs515726164
dbSNP (classic)	rs515726164
ClinGen	rs515726164
ebi	rs515726164
HLI	rs515726164
Exac	rs515726164
Gnomad	rs515726164
Varsome	rs515726164
LitVar	rs515726164
Map	rs515726164
PheGenI	rs515726164
Biobank	rs515726164
1000 genomes	rs515726164
hgdp	rs515726164
ensembl	rs515726164
geneview	rs515726164
scholar	rs515726164
google	rs515726164
pharmgkb	rs515726164
gwascentral	rs515726164
openSNP	rs515726164
23andMe	rs515726164
SNPshot	rs515726164
SNPdbe	rs515726164
MSV3d	rs515726164
GWAS Ctlg	rs515726164

Max Magnitude

0

ClinVar
Risk	rs515726164(T;T)
Alt	rs515726164(T;T)
Reference	Rs515726164(C;C)
Significance	Pathogenic
Disease	Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Skeletal dysplasia
Reversed	0
HGVS	NC_000012.11:g.110230184C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202500.1,