rs281865124

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	6.1	Charcot-Marie-Tooth Disease, type 1
(T;T)	0	common in clinvar

Make rs281865124(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306912

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs281865124
dbSNP (classic)	rs281865124
ClinGen	rs281865124
ebi	rs281865124
HLI	rs281865124
Exac	rs281865124
Gnomad	rs281865124
Varsome	rs281865124
LitVar	rs281865124
Map	rs281865124
PheGenI	rs281865124
Biobank	rs281865124
1000 genomes	rs281865124
hgdp	rs281865124
ensembl	rs281865124
geneview	rs281865124
scholar	rs281865124
google	rs281865124
pharmgkb	rs281865124
gwascentral	rs281865124
openSNP	rs281865124
23andMe	rs281865124
SNPshot	rs281865124
SNPdbe	rs281865124
MSV3d	rs281865124
GWAS Ctlg	rs281865124

Max Magnitude

6.1

ClinVar
Risk	rs281865124(C;C)
Alt	rs281865124(C;C)
Reference	Rs281865124(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed	1
HGVS	NC_000001.10:g.161276702A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033914.1,