rs104894823

Orientation

plus

Stabilized

plus

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

Make rs104894823(C;G)

Make rs104894823(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223961

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894823
dbSNP (classic)	rs104894823
ClinGen	rs104894823
ebi	rs104894823
HLI	rs104894823
Exac	rs104894823
Gnomad	rs104894823
Varsome	rs104894823
LitVar	rs104894823
Map	rs104894823
PheGenI	rs104894823
Biobank	rs104894823
1000 genomes	rs104894823
hgdp	rs104894823
ensembl	rs104894823
geneview	rs104894823
scholar	rs104894823
google	rs104894823
pharmgkb	rs104894823
gwascentral	rs104894823
openSNP	rs104894823
23andMe	rs104894823
SNPshot	rs104894823
SNPdbe	rs104894823
MSV3d	rs104894823
GWAS Ctlg	rs104894823

Max Magnitude

0

OMIM	304040
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894823(G;G)
Alt	rs104894823(G;G)
Reference	Rs104894823(C;C)
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.70443811C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011189.5,