rs121913596

Orientation

minus

Stabilized

minus

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

Make rs121913596(G;T)

Make rs121913596(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307389

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913596
dbSNP (classic)	rs121913596
ClinGen	rs121913596
ebi	rs121913596
HLI	rs121913596
Exac	rs121913596
Gnomad	rs121913596
Varsome	rs121913596
LitVar	rs121913596
Map	rs121913596
PheGenI	rs121913596
Biobank	rs121913596
1000 genomes	rs121913596
hgdp	rs121913596
ensembl	rs121913596
geneview	rs121913596
scholar	rs121913596
google	rs121913596
pharmgkb	rs121913596
gwascentral	rs121913596
openSNP	rs121913596
23andMe	rs121913596
SNPshot	rs121913596
SNPdbe	rs121913596
MSV3d	rs121913596
GWAS Ctlg	rs121913596

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121913596(T;T)
Alt	rs121913596(T;T)
Reference	Rs121913596(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease dominant intermediate 3
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease dominant intermediate 3
Reversed	1
HGVS	NC_000001.10:g.161277179C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015247.27,