rs121912637

Orientation

minus

Stabilized

minus

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

Make rs121912637(C;T)

Make rs121912637(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109784378

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs121912637
dbSNP (classic)	rs121912637
ClinGen	rs121912637
ebi	rs121912637
HLI	rs121912637
Exac	rs121912637
Gnomad	rs121912637
Varsome	rs121912637
LitVar	rs121912637
Map	rs121912637
PheGenI	rs121912637
Biobank	rs121912637
1000 genomes	rs121912637
hgdp	rs121912637
ensembl	rs121912637
geneview	rs121912637
scholar	rs121912637
google	rs121912637
pharmgkb	rs121912637
gwascentral	rs121912637
openSNP	rs121912637
23andMe	rs121912637
SNPshot	rs121912637
SNPdbe	rs121912637
MSV3d	rs121912637
GWAS Ctlg	rs121912637

Max Magnitude

0

OMIM	605427
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912637(G;G) rs121912637(T;T)
Alt	rs121912637(G;G) rs121912637(T;T)
Reference	Rs121912637(C;C)
Significance	Pathogenic
Disease	Metatrophic dysplasia Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia Neuromuscular Diseases
Variation	info
Gene	TRPV4
CLNDBN	Metatrophic dysplasia Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia Neuromuscular Diseases
Reversed	1
HGVS	NC_000012.11:g.110222183G>A; NC_000012.11:g.110222183G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005287.3, RCV000005288.3, RCV000202554.1, RCV000005300.2, RCV000202509.1,