rs121913587

Orientation

minus

Stabilized

minus

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

Make rs121913587(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306752

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913587
dbSNP (classic)	rs121913587
ClinGen	rs121913587
ebi	rs121913587
HLI	rs121913587
Exac	rs121913587
Gnomad	rs121913587
Varsome	rs121913587
LitVar	rs121913587
Map	rs121913587
PheGenI	rs121913587
Biobank	rs121913587
1000 genomes	rs121913587
hgdp	rs121913587
ensembl	rs121913587
geneview	rs121913587
scholar	rs121913587
google	rs121913587
pharmgkb	rs121913587
gwascentral	rs121913587
openSNP	rs121913587
23andMe	rs121913587
SNPshot	rs121913587
SNPdbe	rs121913587
MSV3d	rs121913587
GWAS Ctlg	rs121913587

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121913587(C;C)
Alt	rs121913587(C;C)
Reference	Rs121913587(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b not provided
Reversed	1
HGVS	NC_000001.10:g.161276542A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015235.26, RCV000425572.1,