rs116840818

Orientation

plus

Stabilized

plus

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

Make rs116840818(A;A)

Make rs116840818(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223894

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840818
dbSNP (classic)	rs116840818
ClinGen	rs116840818
ebi	rs116840818
HLI	rs116840818
Exac	rs116840818
Gnomad	rs116840818
Varsome	rs116840818
LitVar	rs116840818
Map	rs116840818
PheGenI	rs116840818
Biobank	rs116840818
1000 genomes	rs116840818
hgdp	rs116840818
ensembl	rs116840818
geneview	rs116840818
scholar	rs116840818
google	rs116840818
pharmgkb	rs116840818
gwascentral	rs116840818
openSNP	rs116840818
23andMe	rs116840818
SNPshot	rs116840818
SNPdbe	rs116840818
MSV3d	rs116840818
GWAS Ctlg	rs116840818

Max Magnitude

0

ClinVar
Risk	rs116840818(A;A)
Alt	rs116840818(A;A)
Reference	Rs116840818(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.70443744G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020171.1, RCV000217618.1,