rs387906324

Orientation

minus

Stabilized

minus

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

Make rs387906324(A;A)

Make rs387906324(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109808308

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387906324
dbSNP (classic)	rs387906324
ClinGen	rs387906324
ebi	rs387906324
HLI	rs387906324
Exac	rs387906324
Gnomad	rs387906324
Varsome	rs387906324
LitVar	rs387906324
Map	rs387906324
PheGenI	rs387906324
Biobank	rs387906324
1000 genomes	rs387906324
hgdp	rs387906324
ensembl	rs387906324
geneview	rs387906324
scholar	rs387906324
google	rs387906324
pharmgkb	rs387906324
gwascentral	rs387906324
openSNP	rs387906324
23andMe	rs387906324
SNPshot	rs387906324
SNPdbe	rs387906324
MSV3d	rs387906324
GWAS Ctlg	rs387906324

Max Magnitude

0

ClinVar
Risk	rs387906324(A;A)
Alt	rs387906324(A;A)
Reference	Rs387906324(G;G)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110246113C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005306.2, RCV000202438.1,