rs397514474

Orientation

minus

Stabilized

minus

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

Make rs397514474(G;T)

Make rs397514474(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109814565

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs397514474
dbSNP (classic)	rs397514474
ClinGen	rs397514474
ebi	rs397514474
HLI	rs397514474
Exac	rs397514474
Gnomad	rs397514474
Varsome	rs397514474
LitVar	rs397514474
Map	rs397514474
PheGenI	rs397514474
Biobank	rs397514474
1000 genomes	rs397514474
hgdp	rs397514474
ensembl	rs397514474
geneview	rs397514474
scholar	rs397514474
google	rs397514474
pharmgkb	rs397514474
gwascentral	rs397514474
openSNP	rs397514474
23andMe	rs397514474
SNPshot	rs397514474
SNPdbe	rs397514474
MSV3d	rs397514474
GWAS Ctlg	rs397514474

Max Magnitude

0

ClinVar
Risk	rs397514474(T;T)
Alt	rs397514474(T;T)
Reference	Rs397514474(G;G)
Significance	Pathogenic
Disease	Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110252370C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023431.3, RCV000202458.1,