rs116840820

Orientation

plus

Stabilized

plus

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

Make rs116840820(-;-)

Make rs116840820(-;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223932

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840820
dbSNP (classic)	rs116840820
ClinGen	rs116840820
ebi	rs116840820
HLI	rs116840820
Exac	rs116840820
Gnomad	rs116840820
Varsome	rs116840820
LitVar	rs116840820
Map	rs116840820
PheGenI	rs116840820
Biobank	rs116840820
1000 genomes	rs116840820
hgdp	rs116840820
ensembl	rs116840820
geneview	rs116840820
scholar	rs116840820
google	rs116840820
pharmgkb	rs116840820
gwascentral	rs116840820
openSNP	rs116840820
23andMe	rs116840820
SNPshot	rs116840820
SNPdbe	rs116840820
MSV3d	rs116840820
GWAS Ctlg	rs116840820

Max Magnitude

0

ClinVar
Risk	rs116840820(-;-)
Alt	rs116840820(-;-)
Reference	Rs116840820(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.70443782delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020173.1,