rs121913593

Orientation

minus

Stabilized

minus

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

Make rs121913593(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306110

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913593
dbSNP (classic)	rs121913593
ClinGen	rs121913593
ebi	rs121913593
HLI	rs121913593
Exac	rs121913593
Gnomad	rs121913593
Varsome	rs121913593
LitVar	rs121913593
Map	rs121913593
PheGenI	rs121913593
Biobank	rs121913593
1000 genomes	rs121913593
hgdp	rs121913593
ensembl	rs121913593
geneview	rs121913593
scholar	rs121913593
google	rs121913593
pharmgkb	rs121913593
gwascentral	rs121913593
openSNP	rs121913593
23andMe	rs121913593
SNPshot	rs121913593
SNPdbe	rs121913593
MSV3d	rs121913593
GWAS Ctlg	rs121913593

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913593(T;T)
Alt	rs121913593(T;T)
Reference	Rs121913593(C;C)
Significance	Pathogenic
Disease	Neuropathy
Variation	info
Gene	MPZ
CLNDBN	Neuropathy, congenital hypomyelinating, autosomal dominant
Reversed	1
HGVS	NC_000001.10:g.161275900G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015241.23,