rs1060500998

Orientation

plus

Stabilized

plus

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

Make rs1060500998(C;C)

Make rs1060500998(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

71223808

Gene

GJB1

is a	snp
is	mentioned by
dbSNP	rs1060500998
dbSNP (classic)	rs1060500998
ClinGen	rs1060500998
ebi	rs1060500998
HLI	rs1060500998
Exac	rs1060500998
Gnomad	rs1060500998
Varsome	rs1060500998
LitVar	rs1060500998
Map	rs1060500998
PheGenI	rs1060500998
Biobank	rs1060500998
1000 genomes	rs1060500998
hgdp	rs1060500998
ensembl	rs1060500998
geneview	rs1060500998
scholar	rs1060500998
google	rs1060500998
pharmgkb	rs1060500998
gwascentral	rs1060500998
openSNP	rs1060500998
23andMe	rs1060500998
SNPshot	rs1060500998
SNPdbe	rs1060500998
MSV3d	rs1060500998
GWAS Ctlg	rs1060500998

Max Magnitude

0

ClinVar
Risk	rs1060500998(C;C)
Alt	rs1060500998(C;C)
Reference	Rs1060500998(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth Neuropathy X
Variation	info
Gene	GJB1
CLNDBN	Charcot-Marie-Tooth Neuropathy X
Reversed	0
HGVS	NC_000023.10:g.70443658T>C
CLNSRC
CLNACC	RCV000467465.1,