rs1060501004

Orientation

plus

Stabilized

plus

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

Make rs1060501004(C;C)

Make rs1060501004(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

71223885

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs1060501004
dbSNP (classic)	rs1060501004
ClinGen	rs1060501004
ebi	rs1060501004
HLI	rs1060501004
Exac	rs1060501004
Gnomad	rs1060501004
Varsome	rs1060501004
LitVar	rs1060501004
Map	rs1060501004
PheGenI	rs1060501004
Biobank	rs1060501004
1000 genomes	rs1060501004
hgdp	rs1060501004
ensembl	rs1060501004
geneview	rs1060501004
scholar	rs1060501004
google	rs1060501004
pharmgkb	rs1060501004
gwascentral	rs1060501004
openSNP	rs1060501004
23andMe	rs1060501004
SNPshot	rs1060501004
SNPdbe	rs1060501004
MSV3d	rs1060501004
GWAS Ctlg	rs1060501004

Max Magnitude

0

ClinVar
Risk	rs1060501004(C;C)
Alt	rs1060501004(C;C)
Reference	Rs1060501004(T;T)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X not provided
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X not provided
Reversed	0
HGVS	NC_000023.10:g.70443735T>C
CLNSRC
CLNACC	RCV000456635.1, RCV000493246.1,