rs116840815

Orientation

plus

Stabilized

plus

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

Make rs116840815(C;T)

Make rs116840815(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71223750

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs116840815
dbSNP (classic)	rs116840815
ClinGen	rs116840815
ebi	rs116840815
HLI	rs116840815
Exac	rs116840815
Gnomad	rs116840815
Varsome	rs116840815
LitVar	rs116840815
Map	rs116840815
PheGenI	rs116840815
Biobank	rs116840815
1000 genomes	rs116840815
hgdp	rs116840815
ensembl	rs116840815
geneview	rs116840815
scholar	rs116840815
google	rs116840815
pharmgkb	rs116840815
gwascentral	rs116840815
openSNP	rs116840815
23andMe	rs116840815
SNPshot	rs116840815
SNPdbe	rs116840815
MSV3d	rs116840815
GWAS Ctlg	rs116840815

Max Magnitude

0

ClinVar
Risk	rs116840815(T;T)
Alt	rs116840815(T;T)
Reference	Rs116840815(C;C)
Significance	Pathogenic
Disease	X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Variation	info
Gene	GJB1
CLNDBN	X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Reversed	0
HGVS	NC_000023.10:g.70443600C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020174.1, RCV000167902.2, RCV000236824.2,