rs104894812

Orientation

plus

Stabilized

plus

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

Make rs104894812(A;A)

Make rs104894812(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224122

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894812
dbSNP (classic)	rs104894812
ClinGen	rs104894812
ebi	rs104894812
HLI	rs104894812
Exac	rs104894812
Gnomad	rs104894812
Varsome	rs104894812
LitVar	rs104894812
Map	rs104894812
PheGenI	rs104894812
Biobank	rs104894812
1000 genomes	rs104894812
hgdp	rs104894812
ensembl	rs104894812
geneview	rs104894812
scholar	rs104894812
google	rs104894812
pharmgkb	rs104894812
gwascentral	rs104894812
openSNP	rs104894812
23andMe	rs104894812
SNPshot	rs104894812
SNPdbe	rs104894812
MSV3d	rs104894812
GWAS Ctlg	rs104894812

Max Magnitude

0

OMIM	304040
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894812(A;A)
Alt	rs104894812(A;A)
Reference	Rs104894812(G;G)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy
Reversed	0
HGVS	NC_000023.10:g.70443972G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011178.4,