rs387906902

Orientation

minus

Stabilized

minus

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

Make rs387906902(A;A)

Make rs387906902(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109793560

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387906902
dbSNP (classic)	rs387906902
ClinGen	rs387906902
ebi	rs387906902
HLI	rs387906902
Exac	rs387906902
Gnomad	rs387906902
Varsome	rs387906902
LitVar	rs387906902
Map	rs387906902
PheGenI	rs387906902
Biobank	rs387906902
1000 genomes	rs387906902
hgdp	rs387906902
ensembl	rs387906902
geneview	rs387906902
scholar	rs387906902
google	rs387906902
pharmgkb	rs387906902
gwascentral	rs387906902
openSNP	rs387906902
23andMe	rs387906902
SNPshot	rs387906902
SNPdbe	rs387906902
MSV3d	rs387906902
GWAS Ctlg	rs387906902

Max Magnitude

0

ClinVar
Risk	rs387906902(A;A)
Alt	rs387906902(A;A)
Reference	Rs387906902(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases Skeletal dysplasia
Variation	info
Gene	TRPV4
CLNDBN	Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases Skeletal dysplasia
Reversed	1
HGVS	NC_000012.11:g.110231365G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023426.3, RCV000202508.1,