rs121913606

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121913606(A;T)

Make rs121913606(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306866

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913606
dbSNP (classic)	rs121913606
ClinGen	rs121913606
ebi	rs121913606
HLI	rs121913606
Exac	rs121913606
Gnomad	rs121913606
Varsome	rs121913606
LitVar	rs121913606
Map	rs121913606
PheGenI	rs121913606
Biobank	rs121913606
1000 genomes	rs121913606
hgdp	rs121913606
ensembl	rs121913606
geneview	rs121913606
scholar	rs121913606
google	rs121913606
pharmgkb	rs121913606
gwascentral	rs121913606
openSNP	rs121913606
23andMe	rs121913606
SNPshot	rs121913606
SNPdbe	rs121913606
MSV3d	rs121913606
GWAS Ctlg	rs121913606

Max Magnitude

0

OMIM	159440
Desc
Variant	0030
Related	also

ClinVar
Risk	rs121913606(T;T)
Alt	rs121913606(T;T)
Reference	Rs121913606(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2J
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2J
Reversed	1
HGVS	NC_000001.10:g.161276656T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015259.26,