rs121913597

Orientation

minus

Stabilized

minus

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

Make rs121913597(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307268

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913597
dbSNP (classic)	rs121913597
ClinGen	rs121913597
ebi	rs121913597
HLI	rs121913597
Exac	rs121913597
Gnomad	rs121913597
Varsome	rs121913597
LitVar	rs121913597
Map	rs121913597
PheGenI	rs121913597
Biobank	rs121913597
1000 genomes	rs121913597
hgdp	rs121913597
ensembl	rs121913597
geneview	rs121913597
scholar	rs121913597
google	rs121913597
pharmgkb	rs121913597
gwascentral	rs121913597
openSNP	rs121913597
23andMe	rs121913597
SNPshot	rs121913597
SNPdbe	rs121913597
MSV3d	rs121913597
GWAS Ctlg	rs121913597

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121913597(T;T)
Alt	rs121913597(T;T)
Reference	Rs121913597(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease
Reversed	1
HGVS	NC_000001.10:g.161277058T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015248.27, RCV000190346.1, RCV000192247.1,