rs116840819

Orientation

plus

Stabilized

plus

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

Make rs116840819(C;T)

Make rs116840819(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223930

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840819
dbSNP (classic)	rs116840819
ClinGen	rs116840819
ebi	rs116840819
HLI	rs116840819
Exac	rs116840819
Gnomad	rs116840819
Varsome	rs116840819
LitVar	rs116840819
Map	rs116840819
PheGenI	rs116840819
Biobank	rs116840819
1000 genomes	rs116840819
hgdp	rs116840819
ensembl	rs116840819
geneview	rs116840819
scholar	rs116840819
google	rs116840819
pharmgkb	rs116840819
gwascentral	rs116840819
openSNP	rs116840819
23andMe	rs116840819
SNPshot	rs116840819
SNPdbe	rs116840819
MSV3d	rs116840819
GWAS Ctlg	rs116840819

Max Magnitude

0

ClinVar
Risk	rs116840819(A;A) rs116840819(T;T)
Alt	rs116840819(A;A) rs116840819(T;T)
Reference	Rs116840819(C;C)
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.70443780C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020172.1, RCV000236563.1,