rs267607145

Orientation

minus

Stabilized

minus

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

Make rs267607145(C;T)

Make rs267607145(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109798820

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs267607145
dbSNP (classic)	rs267607145
ClinGen	rs267607145
ebi	rs267607145
HLI	rs267607145
Exac	rs267607145
Gnomad	rs267607145
Varsome	rs267607145
LitVar	rs267607145
Map	rs267607145
PheGenI	rs267607145
Biobank	rs267607145
1000 genomes	rs267607145
hgdp	rs267607145
ensembl	rs267607145
geneview	rs267607145
scholar	rs267607145
google	rs267607145
pharmgkb	rs267607145
gwascentral	rs267607145
openSNP	rs267607145
23andMe	rs267607145
SNPshot	rs267607145
SNPdbe	rs267607145
MSV3d	rs267607145
GWAS Ctlg	rs267607145

Max Magnitude

0

ClinVar
Risk	rs267607145(A;A) rs267607145(T;T)
Alt	rs267607145(A;A) rs267607145(T;T)
Reference	Rs267607145(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Variation	info
Gene	TRPV4
CLNDBN	Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Reversed	1
HGVS	NC_000012.11:g.110236625G>A; NC_000012.11:g.110236625G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005294.3, RCV000005295.3, RCV000192245.1, RCV000202561.1, RCV000236285.2, RCV000482826.1,