rs116571438

Orientation

plus

Stabilized

plus

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

Make rs116571438(A;A)

Make rs116571438(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109788483

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs116571438
dbSNP (classic)	rs116571438
ClinGen	rs116571438
ebi	rs116571438
HLI	rs116571438
Exac	rs116571438
Gnomad	rs116571438
Varsome	rs116571438
LitVar	rs116571438
Map	rs116571438
PheGenI	rs116571438
Biobank	rs116571438
1000 genomes	rs116571438
hgdp	rs116571438
ensembl	rs116571438
geneview	rs116571438
scholar	rs116571438
google	rs116571438
pharmgkb	rs116571438
gwascentral	rs116571438
openSNP	rs116571438
23andMe	rs116571438
SNPshot	rs116571438
SNPdbe	rs116571438
MSV3d	rs116571438
GWAS Ctlg	rs116571438

Max Magnitude

0

ClinVar
Risk	rs116571438(A;A) rs116571438(T;T)
Alt	rs116571438(A;A) rs116571438(T;T)
Reference	Rs116571438(G;G)
Significance	Pathogenic
Disease	Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Skeletal dysplasia
Reversed	0
HGVS	NC_000012.11:g.110226288G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202538.1,