rs104894822

Orientation

plus

Stabilized

plus

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

Make rs104894822(A;G)

Make rs104894822(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224321

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894822
dbSNP (classic)	rs104894822
ClinGen	rs104894822
ebi	rs104894822
HLI	rs104894822
Exac	rs104894822
Gnomad	rs104894822
Varsome	rs104894822
LitVar	rs104894822
Map	rs104894822
PheGenI	rs104894822
Biobank	rs104894822
1000 genomes	rs104894822
hgdp	rs104894822
ensembl	rs104894822
geneview	rs104894822
scholar	rs104894822
google	rs104894822
pharmgkb	rs104894822
gwascentral	rs104894822
openSNP	rs104894822
23andMe	rs104894822
SNPshot	rs104894822
SNPdbe	rs104894822
MSV3d	rs104894822
GWAS Ctlg	rs104894822

Max Magnitude

0

OMIM	304040
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894822(G;G)
Alt	rs104894822(G;G)
Reference	Rs104894822(A;A)
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.70444171A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011187.3,