rs281865130

Orientation

minus

Stabilized

minus

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

Make rs281865130(A;G)

Make rs281865130(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306809

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs281865130
dbSNP (classic)	rs281865130
ClinGen	rs281865130
ebi	rs281865130
HLI	rs281865130
Exac	rs281865130
Gnomad	rs281865130
Varsome	rs281865130
LitVar	rs281865130
Map	rs281865130
PheGenI	rs281865130
Biobank	rs281865130
1000 genomes	rs281865130
hgdp	rs281865130
ensembl	rs281865130
geneview	rs281865130
scholar	rs281865130
google	rs281865130
pharmgkb	rs281865130
gwascentral	rs281865130
openSNP	rs281865130
23andMe	rs281865130
SNPshot	rs281865130
SNPdbe	rs281865130
MSV3d	rs281865130
GWAS Ctlg	rs281865130

Max Magnitude

0

ClinVar
Risk	rs281865130(G;G)
Alt	rs281865130(G;G)
Reference	Rs281865130(A;A)
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.161276599T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033923.1,