rs397514473

Orientation

minus

Stabilized

minus

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

Make rs397514473(C;T)

Make rs397514473(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109814531

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs397514473
dbSNP (classic)	rs397514473
ClinGen	rs397514473
ebi	rs397514473
HLI	rs397514473
Exac	rs397514473
Gnomad	rs397514473
Varsome	rs397514473
LitVar	rs397514473
Map	rs397514473
PheGenI	rs397514473
Biobank	rs397514473
1000 genomes	rs397514473
hgdp	rs397514473
ensembl	rs397514473
geneview	rs397514473
scholar	rs397514473
google	rs397514473
pharmgkb	rs397514473
gwascentral	rs397514473
openSNP	rs397514473
23andMe	rs397514473
SNPshot	rs397514473
SNPdbe	rs397514473
MSV3d	rs397514473
GWAS Ctlg	rs397514473

Max Magnitude

0

ClinVar
Risk	rs397514473(T;T)
Alt	rs397514473(T;T)
Reference	Rs397514473(C;C)
Significance	Pathogenic
Disease	Metatrophic dysplasia Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Metatrophic dysplasia Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110252336G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023427.3, RCV000202521.1,