rs863224472

Orientation

plus

Stabilized

plus

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

Make rs863224472(A;A)

Make rs863224472(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71223716

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs863224472
dbSNP (classic)	rs863224472
ClinGen	rs863224472
ebi	rs863224472
HLI	rs863224472
Exac	rs863224472
Gnomad	rs863224472
Varsome	rs863224472
LitVar	rs863224472
Map	rs863224472
PheGenI	rs863224472
Biobank	rs863224472
1000 genomes	rs863224472
hgdp	rs863224472
ensembl	rs863224472
geneview	rs863224472
scholar	rs863224472
google	rs863224472
pharmgkb	rs863224472
gwascentral	rs863224472
openSNP	rs863224472
23andMe	rs863224472
SNPshot	rs863224472
SNPdbe	rs863224472
MSV3d	rs863224472
GWAS Ctlg	rs863224472

Max Magnitude

0

ClinVar
Risk	rs863224472(A;A)
Alt	rs863224472(A;A)
Reference	Rs863224472(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X
Reversed	0
HGVS	NC_000023.10:g.70443566G>A
CLNSRC
CLNACC	RCV000199286.1,