rs121913609

Orientation

minus

Stabilized

minus

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

Make rs121913609(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306843

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913609
dbSNP (classic)	rs121913609
ClinGen	rs121913609
ebi	rs121913609
HLI	rs121913609
Exac	rs121913609
Gnomad	rs121913609
Varsome	rs121913609
LitVar	rs121913609
Map	rs121913609
PheGenI	rs121913609
Biobank	rs121913609
1000 genomes	rs121913609
hgdp	rs121913609
ensembl	rs121913609
geneview	rs121913609
scholar	rs121913609
google	rs121913609
pharmgkb	rs121913609
gwascentral	rs121913609
openSNP	rs121913609
23andMe	rs121913609
SNPshot	rs121913609
SNPdbe	rs121913609
MSV3d	rs121913609
GWAS Ctlg	rs121913609

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121913609(A;A) rs121913609(G;G)
Alt	rs121913609(A;A) rs121913609(G;G)
Reference	Rs121913609(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2J not provided
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2J not provided
Reversed	1
HGVS	NC_000001.10:g.161276633G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015263.26, RCV000223657.1,