rs121913600

Orientation

minus

Stabilized

minus

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

Make rs121913600(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306848

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913600
dbSNP (classic)	rs121913600
ClinGen	rs121913600
ebi	rs121913600
HLI	rs121913600
Exac	rs121913600
Gnomad	rs121913600
Varsome	rs121913600
LitVar	rs121913600
Map	rs121913600
PheGenI	rs121913600
Biobank	rs121913600
1000 genomes	rs121913600
hgdp	rs121913600
ensembl	rs121913600
geneview	rs121913600
scholar	rs121913600
google	rs121913600
pharmgkb	rs121913600
gwascentral	rs121913600
openSNP	rs121913600
23andMe	rs121913600
SNPshot	rs121913600
SNPdbe	rs121913600
MSV3d	rs121913600
GWAS Ctlg	rs121913600

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121913600(A;A)
Alt	rs121913600(A;A)
Reference	Rs121913600(G;G)
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.161276638C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015251.26,