rs104894826

Orientation

plus

Stabilized

plus

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

Make rs104894826(C;C)

Make rs104894826(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224114

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894826
dbSNP (classic)	rs104894826
ClinGen	rs104894826
ebi	rs104894826
HLI	rs104894826
Exac	rs104894826
Gnomad	rs104894826
Varsome	rs104894826
LitVar	rs104894826
Map	rs104894826
PheGenI	rs104894826
Biobank	rs104894826
1000 genomes	rs104894826
hgdp	rs104894826
ensembl	rs104894826
geneview	rs104894826
scholar	rs104894826
google	rs104894826
pharmgkb	rs104894826
gwascentral	rs104894826
openSNP	rs104894826
23andMe	rs104894826
SNPshot	rs104894826
SNPdbe	rs104894826
MSV3d	rs104894826
GWAS Ctlg	rs104894826

Max Magnitude

0

OMIM	304040
Desc
Variant	0021
Related	also

ClinVar
Risk	rs104894826(C;C)
Alt	rs104894826(C;C)
Reference	Rs104894826(T;T)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy Dejerine-Sottas disease
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy Dejerine-Sottas disease
Reversed	0
HGVS	NC_000023.10:g.70443964T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011196.5, RCV000011197.5,