rs267607148

Orientation

minus

Stabilized

minus

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

Make rs267607148(A;A)

Make rs267607148(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109800639

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607148
dbSNP (classic)	rs267607148
ClinGen	rs267607148
ebi	rs267607148
HLI	rs267607148
Exac	rs267607148
Gnomad	rs267607148
Varsome	rs267607148
LitVar	rs267607148
Map	rs267607148
PheGenI	rs267607148
Biobank	rs267607148
1000 genomes	rs267607148
hgdp	rs267607148
ensembl	rs267607148
geneview	rs267607148
scholar	rs267607148
google	rs267607148
pharmgkb	rs267607148
gwascentral	rs267607148
openSNP	rs267607148
23andMe	rs267607148
SNPshot	rs267607148
SNPdbe	rs267607148
MSV3d	rs267607148
GWAS Ctlg	rs267607148

Max Magnitude

0

ClinVar
Risk	rs267607148(A;A)
Alt	rs267607148(A;A)
Reference	Rs267607148(G;G)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Spondylometaphyseal dysplasia, Kozlowski type Neuromuscular Diseases Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110238444C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005302.3, RCV000202563.1,