rs267607146

Orientation

minus

Stabilized

minus

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

Make rs267607146(C;T)

Make rs267607146(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109800666

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607146
dbSNP (classic)	rs267607146
ClinGen	rs267607146
ebi	rs267607146
HLI	rs267607146
Exac	rs267607146
Gnomad	rs267607146
Varsome	rs267607146
LitVar	rs267607146
Map	rs267607146
PheGenI	rs267607146
Biobank	rs267607146
1000 genomes	rs267607146
hgdp	rs267607146
ensembl	rs267607146
geneview	rs267607146
scholar	rs267607146
google	rs267607146
pharmgkb	rs267607146
gwascentral	rs267607146
openSNP	rs267607146
23andMe	rs267607146
SNPshot	rs267607146
SNPdbe	rs267607146
MSV3d	rs267607146
GWAS Ctlg	rs267607146

Max Magnitude

0

ClinVar
Risk	rs267607146(T;T)
Alt	rs267607146(T;T)
Reference	Rs267607146(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Distal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases
Variation	info
Gene	TRPV4
CLNDBN	Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Distal spinal muscular atrophy, congenital nonprogressive Charcot-Marie-Tooth disease Neuromuscular Diseases
Reversed	1
HGVS	NC_000012.11:g.110238471G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005296.4, RCV000033215.4, RCV000190885.3, RCV000192242.1, RCV000202537.1,