rs387906904

Orientation

minus

Stabilized

minus

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

Make rs387906904(C;T)

Make rs387906904(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109803009

Gene

TRPV4

is a	snp
is	mentioned by
dbSNP	rs387906904
dbSNP (classic)	rs387906904
ClinGen	rs387906904
ebi	rs387906904
HLI	rs387906904
Exac	rs387906904
Gnomad	rs387906904
Varsome	rs387906904
LitVar	rs387906904
Map	rs387906904
PheGenI	rs387906904
Biobank	rs387906904
1000 genomes	rs387906904
hgdp	rs387906904
ensembl	rs387906904
geneview	rs387906904
scholar	rs387906904
google	rs387906904
pharmgkb	rs387906904
gwascentral	rs387906904
openSNP	rs387906904
23andMe	rs387906904
SNPshot	rs387906904
SNPdbe	rs387906904
MSV3d	rs387906904
GWAS Ctlg	rs387906904

Max Magnitude

0

ClinVar
Risk	rs387906904(T;T)
Alt	rs387906904(T;T)
Reference	Rs387906904(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy Neuromuscular Diseases Skeletal dysplasia not provided
Variation	info
Gene	TRPV4
CLNDBN	Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy, congenital nonprogressive Neuromuscular Diseases Skeletal dysplasia not provided
Reversed	1
HGVS	NC_000012.11:g.110240814G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023429.5, RCV000190886.3, RCV000202445.1, RCV000236017.1,