rs267607150

Orientation

minus

Stabilized

minus

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

Make rs267607150(A;G)

Make rs267607150(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109792671

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607150
dbSNP (classic)	rs267607150
ClinGen	rs267607150
ebi	rs267607150
HLI	rs267607150
Exac	rs267607150
Gnomad	rs267607150
Varsome	rs267607150
LitVar	rs267607150
Map	rs267607150
PheGenI	rs267607150
Biobank	rs267607150
1000 genomes	rs267607150
hgdp	rs267607150
ensembl	rs267607150
geneview	rs267607150
scholar	rs267607150
google	rs267607150
pharmgkb	rs267607150
gwascentral	rs267607150
openSNP	rs267607150
23andMe	rs267607150
SNPshot	rs267607150
SNPdbe	rs267607150
MSV3d	rs267607150
GWAS Ctlg	rs267607150

Max Magnitude

0

ClinVar
Risk	rs267607150(G;G)
Alt	rs267607150(G;G)
Reference	Rs267607150(A;A)
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.110230476T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023425.2, RCV000202448.1,