rs116840816

Orientation

plus

Stabilized

plus

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

Make rs116840816(C;C)

Make rs116840816(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223830

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840816
dbSNP (classic)	rs116840816
ClinGen	rs116840816
ebi	rs116840816
HLI	rs116840816
Exac	rs116840816
Gnomad	rs116840816
Varsome	rs116840816
LitVar	rs116840816
Map	rs116840816
PheGenI	rs116840816
Biobank	rs116840816
1000 genomes	rs116840816
hgdp	rs116840816
ensembl	rs116840816
geneview	rs116840816
scholar	rs116840816
google	rs116840816
pharmgkb	rs116840816
gwascentral	rs116840816
openSNP	rs116840816
23andMe	rs116840816
SNPshot	rs116840816
SNPdbe	rs116840816
MSV3d	rs116840816
GWAS Ctlg	rs116840816

Max Magnitude

0

ClinVar
Risk	rs116840816(C;C)
Alt	rs116840816(C;C)
Reference	Rs116840816(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.70443680G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020169.1,