rs121913590

Orientation

minus

Stabilized

minus

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

Make rs121913590(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306864

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913590
dbSNP (classic)	rs121913590
ClinGen	rs121913590
ebi	rs121913590
HLI	rs121913590
Exac	rs121913590
Gnomad	rs121913590
Varsome	rs121913590
LitVar	rs121913590
Map	rs121913590
PheGenI	rs121913590
Biobank	rs121913590
1000 genomes	rs121913590
hgdp	rs121913590
ensembl	rs121913590
geneview	rs121913590
scholar	rs121913590
google	rs121913590
pharmgkb	rs121913590
gwascentral	rs121913590
openSNP	rs121913590
23andMe	rs121913590
SNPshot	rs121913590
SNPdbe	rs121913590
MSV3d	rs121913590
GWAS Ctlg	rs121913590

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121913590(T;T)
Alt	rs121913590(T;T)
Reference	Rs121913590(C;C)
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.161276654G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015238.26, RCV000237048.1,