rs1060501000

Orientation

plus

Stabilized

plus

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

Make rs1060501000(A;A)

Make rs1060501000(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

71223809

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs1060501000
dbSNP (classic)	rs1060501000
ClinGen	rs1060501000
ebi	rs1060501000
HLI	rs1060501000
Exac	rs1060501000
Gnomad	rs1060501000
Varsome	rs1060501000
LitVar	rs1060501000
Map	rs1060501000
PheGenI	rs1060501000
Biobank	rs1060501000
1000 genomes	rs1060501000
hgdp	rs1060501000
ensembl	rs1060501000
geneview	rs1060501000
scholar	rs1060501000
google	rs1060501000
pharmgkb	rs1060501000
gwascentral	rs1060501000
openSNP	rs1060501000
23andMe	rs1060501000
SNPshot	rs1060501000
SNPdbe	rs1060501000
MSV3d	rs1060501000
GWAS Ctlg	rs1060501000

Max Magnitude

0

ClinVar
Risk	rs1060501000(A;A)
Alt	rs1060501000(A;A)
Reference	Rs1060501000(G;G)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X
Reversed	0
HGVS	NC_000023.10:g.70443659G>A
CLNSRC
CLNACC	RCV000468413.1,