rs267607149

Orientation

minus

Stabilized

minus

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

Make rs267607149(A;A)

Make rs267607149(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109784385

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607149
dbSNP (classic)	rs267607149
ClinGen	rs267607149
ebi	rs267607149
HLI	rs267607149
Exac	rs267607149
Gnomad	rs267607149
Varsome	rs267607149
LitVar	rs267607149
Map	rs267607149
PheGenI	rs267607149
Biobank	rs267607149
1000 genomes	rs267607149
hgdp	rs267607149
ensembl	rs267607149
geneview	rs267607149
scholar	rs267607149
google	rs267607149
pharmgkb	rs267607149
gwascentral	rs267607149
openSNP	rs267607149
23andMe	rs267607149
SNPshot	rs267607149
SNPdbe	rs267607149
MSV3d	rs267607149
GWAS Ctlg	rs267607149

Max Magnitude

0

ClinVar
Risk	rs267607149(A;A)
Alt	rs267607149(A;A)
Reference	Rs267607149(G;G)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia Spondyloepiphyseal dysplasia Maroteaux type Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Spondylometaphyseal dysplasia, Kozlowski type Spondyloepiphyseal dysplasia Maroteaux type Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110222190C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005303.2, RCV000005304.2, RCV000023424.2, RCV000202566.1,