rs104894819

Orientation

plus

Stabilized

plus

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

Make rs104894819(A;G)

Make rs104894819(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223901

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894819
dbSNP (classic)	rs104894819
ClinGen	rs104894819
ebi	rs104894819
HLI	rs104894819
Exac	rs104894819
Gnomad	rs104894819
Varsome	rs104894819
LitVar	rs104894819
Map	rs104894819
PheGenI	rs104894819
Biobank	rs104894819
1000 genomes	rs104894819
hgdp	rs104894819
ensembl	rs104894819
geneview	rs104894819
scholar	rs104894819
google	rs104894819
pharmgkb	rs104894819
gwascentral	rs104894819
openSNP	rs104894819
23andMe	rs104894819
SNPshot	rs104894819
SNPdbe	rs104894819
MSV3d	rs104894819
GWAS Ctlg	rs104894819

Max Magnitude

0

OMIM	304040
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894819(G;G)
Alt	rs104894819(G;G)
Reference	Rs104894819(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.70443751A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011183.2,