rs116840822

Orientation

plus

Stabilized

plus

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

Make rs116840822(A;A)

Make rs116840822(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224243

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840822
dbSNP (classic)	rs116840822
ClinGen	rs116840822
ebi	rs116840822
HLI	rs116840822
Exac	rs116840822
Gnomad	rs116840822
Varsome	rs116840822
LitVar	rs116840822
Map	rs116840822
PheGenI	rs116840822
Biobank	rs116840822
1000 genomes	rs116840822
hgdp	rs116840822
ensembl	rs116840822
geneview	rs116840822
scholar	rs116840822
google	rs116840822
pharmgkb	rs116840822
gwascentral	rs116840822
openSNP	rs116840822
23andMe	rs116840822
SNPshot	rs116840822
SNPdbe	rs116840822
MSV3d	rs116840822
GWAS Ctlg	rs116840822

Max Magnitude

0

ClinVar
Risk	rs116840822(A;A)
Alt	rs116840822(A;A)
Reference	Rs116840822(G;G)
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.70444093G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020175.1, RCV000220506.1,