rs104894825

Orientation

plus

Stabilized

plus

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

Make rs104894825(G;G)

Make rs104894825(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224411

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs104894825
dbSNP (classic)	rs104894825
ClinGen	rs104894825
ebi	rs104894825
HLI	rs104894825
Exac	rs104894825
Gnomad	rs104894825
Varsome	rs104894825
LitVar	rs104894825
Map	rs104894825
PheGenI	rs104894825
Biobank	rs104894825
1000 genomes	rs104894825
hgdp	rs104894825
ensembl	rs104894825
geneview	rs104894825
scholar	rs104894825
google	rs104894825
pharmgkb	rs104894825
gwascentral	rs104894825
openSNP	rs104894825
23andMe	rs104894825
SNPshot	rs104894825
SNPdbe	rs104894825
MSV3d	rs104894825
GWAS Ctlg	rs104894825

GMAF

0.001814

Max Magnitude

0

OMIM	304040
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104894825(G;G)
Alt	rs104894825(G;G)
Reference	Rs104894825(T;T)
Significance	Other
Disease	X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth not specified Charcot-Marie-Tooth Neuropathy X
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth, X-linked not specified Charcot-Marie-Tooth Neuropathy X
Reversed	0
HGVS	NC_000023.10:g.70444261T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011195.6, RCV000340151.1, RCV000344288.2, RCV000467010.1,