rs116840821

Orientation

plus

Stabilized

plus

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

Make rs116840821(A;A)

Make rs116840821(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71224263

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840821
dbSNP (classic)	rs116840821
ClinGen	rs116840821
ebi	rs116840821
HLI	rs116840821
Exac	rs116840821
Gnomad	rs116840821
Varsome	rs116840821
LitVar	rs116840821
Map	rs116840821
PheGenI	rs116840821
Biobank	rs116840821
1000 genomes	rs116840821
hgdp	rs116840821
ensembl	rs116840821
geneview	rs116840821
scholar	rs116840821
google	rs116840821
pharmgkb	rs116840821
gwascentral	rs116840821
openSNP	rs116840821
23andMe	rs116840821
SNPshot	rs116840821
SNPdbe	rs116840821
MSV3d	rs116840821
GWAS Ctlg	rs116840821

Max Magnitude

0

ClinVar
Risk	rs116840821(A;A) rs116840821(T;T)
Alt	rs116840821(A;A) rs116840821(T;T)
Reference	Rs116840821(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.70444113G>A; NC_000023.10:g.70444113G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020176.1, RCV000214191.1,