rs863224972

Orientation

plus

Stabilized

plus

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

Make rs863224972(A;A)

Make rs863224972(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

71223931

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs863224972
dbSNP (classic)	rs863224972
ClinGen	rs863224972
ebi	rs863224972
HLI	rs863224972
Exac	rs863224972
Gnomad	rs863224972
Varsome	rs863224972
LitVar	rs863224972
Map	rs863224972
PheGenI	rs863224972
Biobank	rs863224972
1000 genomes	rs863224972
hgdp	rs863224972
ensembl	rs863224972
geneview	rs863224972
scholar	rs863224972
google	rs863224972
pharmgkb	rs863224972
gwascentral	rs863224972
openSNP	rs863224972
23andMe	rs863224972
SNPshot	rs863224972
SNPdbe	rs863224972
MSV3d	rs863224972
GWAS Ctlg	rs863224972

Max Magnitude

0

ClinVar
Risk	rs863224972(A;A)
Alt	rs863224972(A;A)
Reference	Rs863224972(G;G)
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.70443781G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201183.1,