rs116840817

Orientation

plus

Stabilized

plus

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

Make rs116840817(C;C)

Make rs116840817(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223852

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840817
dbSNP (classic)	rs116840817
ClinGen	rs116840817
ebi	rs116840817
HLI	rs116840817
Exac	rs116840817
Gnomad	rs116840817
Varsome	rs116840817
LitVar	rs116840817
Map	rs116840817
PheGenI	rs116840817
Biobank	rs116840817
1000 genomes	rs116840817
hgdp	rs116840817
ensembl	rs116840817
geneview	rs116840817
scholar	rs116840817
google	rs116840817
pharmgkb	rs116840817
gwascentral	rs116840817
openSNP	rs116840817
23andMe	rs116840817
SNPshot	rs116840817
SNPdbe	rs116840817
MSV3d	rs116840817
GWAS Ctlg	rs116840817

Max Magnitude

0

ClinVar
Risk	rs116840817(C;C)
Alt	rs116840817(C;C)
Reference	Rs116840817(T;T)
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.70443702T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020170.1,