rs121913602

Orientation

minus

Stabilized

minus

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

Make rs121913602(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307308

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913602
dbSNP (classic)	rs121913602
ClinGen	rs121913602
ebi	rs121913602
HLI	rs121913602
Exac	rs121913602
Gnomad	rs121913602
Varsome	rs121913602
LitVar	rs121913602
Map	rs121913602
PheGenI	rs121913602
Biobank	rs121913602
1000 genomes	rs121913602
hgdp	rs121913602
ensembl	rs121913602
geneview	rs121913602
scholar	rs121913602
google	rs121913602
pharmgkb	rs121913602
gwascentral	rs121913602
openSNP	rs121913602
23andMe	rs121913602
SNPshot	rs121913602
SNPdbe	rs121913602
MSV3d	rs121913602
GWAS Ctlg	rs121913602

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121913602(T;T)
Alt	rs121913602(T;T)
Reference	Rs121913602(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
Reversed	1
HGVS	NC_000001.10:g.161277098T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015253.26,