rs139643362

Orientation

plus

Stabilized

plus

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

Make rs139643362(C;T)

Make rs139643362(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71224197

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs139643362
dbSNP (classic)	rs139643362
ClinGen	rs139643362
ebi	rs139643362
HLI	rs139643362
Exac	rs139643362
Gnomad	rs139643362
Varsome	rs139643362
LitVar	rs139643362
Map	rs139643362
PheGenI	rs139643362
Biobank	rs139643362
1000 genomes	rs139643362
hgdp	rs139643362
ensembl	rs139643362
geneview	rs139643362
scholar	rs139643362
google	rs139643362
pharmgkb	rs139643362
gwascentral	rs139643362
openSNP	rs139643362
23andMe	rs139643362
SNPshot	rs139643362
SNPdbe	rs139643362
MSV3d	rs139643362
GWAS Ctlg	rs139643362

Max Magnitude

0

ClinVar
Risk	rs139643362(T;T)
Alt	rs139643362(T;T)
Reference	Rs139643362(C;C)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy not provided
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy not provided
Reversed	0
HGVS	NC_000023.10:g.70444047C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201175.1, RCV000307118.1,