Rs104894812

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894812
PheGenI	rs104894812
nextbio	rs104894812
hapmap	rs104894812
1000 genomes	rs104894812
hgdp	rs104894812
ensembl	rs104894812
gopubmed	rs104894812
geneview	rs104894812
scholar	rs104894812
google	rs104894812
pharmgkb	rs104894812
gwascentral	rs104894812
openSNP	rs104894812
23andMe	rs104894812
23andMe all	rs104894812
SNP Nexus
SNPshot	rs104894812
SNPdbe	rs104894812
MSV3d	rs104894812

Gene

GJB1

Chromosome

X

Orientation

plus

Position

70443972

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104894812(A;A)

Make rs104894812(A;G)

OMIM	304040
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894812(A;A)
Normal	rs104894812(G;G)
Significance	5
Disease	X-linked hereditary motor and sensory neuropathy
ClinVar	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy
Reversed	0
CLNHGVS	NC_000023.10:g.70443972G>A
CLNSRC	OMIM Allelic Variant, GeneReviews