rs121913594

Orientation

minus

Stabilized

minus

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

Make rs121913594(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306914

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913594
dbSNP (classic)	rs121913594
ClinGen	rs121913594
ebi	rs121913594
HLI	rs121913594
Exac	rs121913594
Gnomad	rs121913594
Varsome	rs121913594
LitVar	rs121913594
Map	rs121913594
PheGenI	rs121913594
Biobank	rs121913594
1000 genomes	rs121913594
hgdp	rs121913594
ensembl	rs121913594
geneview	rs121913594
scholar	rs121913594
google	rs121913594
pharmgkb	rs121913594
gwascentral	rs121913594
openSNP	rs121913594
23andMe	rs121913594
SNPshot	rs121913594
SNPdbe	rs121913594
MSV3d	rs121913594
GWAS Ctlg	rs121913594

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121913594(G;G)
Alt	rs121913594(G;G)
Reference	Rs121913594(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.161276704T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015242.27,