rs121913599

Orientation

minus

Stabilized

minus

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

Make rs121913599(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306763

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913599
dbSNP (classic)	rs121913599
ClinGen	rs121913599
ebi	rs121913599
HLI	rs121913599
Exac	rs121913599
Gnomad	rs121913599
Varsome	rs121913599
LitVar	rs121913599
Map	rs121913599
PheGenI	rs121913599
Biobank	rs121913599
1000 genomes	rs121913599
hgdp	rs121913599
ensembl	rs121913599
geneview	rs121913599
scholar	rs121913599
google	rs121913599
pharmgkb	rs121913599
gwascentral	rs121913599
openSNP	rs121913599
23andMe	rs121913599
SNPshot	rs121913599
SNPdbe	rs121913599
MSV3d	rs121913599
GWAS Ctlg	rs121913599

Max Magnitude

6.1

ClinVar
Risk	rs121913599(A;A)
Alt	rs121913599(A;A)
Reference	Rs121913599(C;C)
Significance	Pathogenic
Disease	Roussy-Lévy syndrome Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Roussy-Lévy syndrome Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed	1
HGVS	NC_000001.10:g.161276553G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015250.26, RCV000192587.1,

OMIM	159440
Desc
Variant	0021
Related	also