rs267607143

Orientation

minus

Stabilized

minus

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

Make rs267607143(C;T)

Make rs267607143(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109798823

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607143
dbSNP (classic)	rs267607143
ClinGen	rs267607143
ebi	rs267607143
HLI	rs267607143
Exac	rs267607143
Gnomad	rs267607143
Varsome	rs267607143
LitVar	rs267607143
Map	rs267607143
PheGenI	rs267607143
Biobank	rs267607143
1000 genomes	rs267607143
hgdp	rs267607143
ensembl	rs267607143
geneview	rs267607143
scholar	rs267607143
google	rs267607143
pharmgkb	rs267607143
gwascentral	rs267607143
openSNP	rs267607143
23andMe	rs267607143
SNPshot	rs267607143
SNPdbe	rs267607143
MSV3d	rs267607143
GWAS Ctlg	rs267607143

Max Magnitude

0

ClinVar
Risk	rs267607143(T;T)
Alt	rs267607143(T;T)
Reference	Rs267607143(C;C)
Significance	Pathogenic
Disease	Distal spinal muscular atrophy Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Variation	info
Gene	TRPV4
CLNDBN	Distal spinal muscular atrophy, congenital nonprogressive Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Reversed	1
HGVS	NC_000012.11:g.110236628G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005289.4, RCV000005290.4, RCV000005291.5, RCV000192244.1, RCV000202514.1, RCV000236487.1,