rs121913598

Orientation

minus

Stabilized

minus

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

Make rs121913598(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307361

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913598
dbSNP (classic)	rs121913598
ClinGen	rs121913598
ebi	rs121913598
HLI	rs121913598
Exac	rs121913598
Gnomad	rs121913598
Varsome	rs121913598
LitVar	rs121913598
Map	rs121913598
PheGenI	rs121913598
Biobank	rs121913598
1000 genomes	rs121913598
hgdp	rs121913598
ensembl	rs121913598
geneview	rs121913598
scholar	rs121913598
google	rs121913598
pharmgkb	rs121913598
gwascentral	rs121913598
openSNP	rs121913598
23andMe	rs121913598
SNPshot	rs121913598
SNPdbe	rs121913598
MSV3d	rs121913598
GWAS Ctlg	rs121913598

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121913598(T;T)
Alt	rs121913598(T;T)
Reference	Rs121913598(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed	1
HGVS	NC_000001.10:g.161277151G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015249.27, RCV000190345.1,