rs121913588

Orientation

minus

Stabilized

minus

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

Make rs121913588(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306747

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913588
dbSNP (classic)	rs121913588
ClinGen	rs121913588
ebi	rs121913588
HLI	rs121913588
Exac	rs121913588
Gnomad	rs121913588
Varsome	rs121913588
LitVar	rs121913588
Map	rs121913588
PheGenI	rs121913588
Biobank	rs121913588
1000 genomes	rs121913588
hgdp	rs121913588
ensembl	rs121913588
geneview	rs121913588
scholar	rs121913588
google	rs121913588
pharmgkb	rs121913588
gwascentral	rs121913588
openSNP	rs121913588
23andMe	rs121913588
SNPshot	rs121913588
SNPdbe	rs121913588
MSV3d	rs121913588
GWAS Ctlg	rs121913588

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121913588(A;A)
Alt	rs121913588(A;A)
Reference	Rs121913588(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I
Reversed	1
HGVS	NC_000001.10:g.161276537C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015236.26, RCV000462311.1,