rs863224612

Orientation

plus

Stabilized

plus

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

Make rs863224612(G;G)

Make rs863224612(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71223820

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs863224612
dbSNP (classic)	rs863224612
ClinGen	rs863224612
ebi	rs863224612
HLI	rs863224612
Exac	rs863224612
Gnomad	rs863224612
Varsome	rs863224612
LitVar	rs863224612
Map	rs863224612
PheGenI	rs863224612
Biobank	rs863224612
1000 genomes	rs863224612
hgdp	rs863224612
ensembl	rs863224612
geneview	rs863224612
scholar	rs863224612
google	rs863224612
pharmgkb	rs863224612
gwascentral	rs863224612
openSNP	rs863224612
23andMe	rs863224612
SNPshot	rs863224612
SNPdbe	rs863224612
MSV3d	rs863224612
GWAS Ctlg	rs863224612

Max Magnitude

0

ClinVar
Risk	rs863224612(G;G)
Alt	rs863224612(G;G)
Reference	Rs863224612(T;T)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X not provided
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X not provided
Reversed	0
HGVS	NC_000023.10:g.70443670T>G
CLNSRC
CLNACC	RCV000199414.1, RCV000235965.1,