rs121913608

Orientation

minus

Stabilized

minus

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

Make rs121913608(A;A)

Make rs121913608(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306789

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913608
dbSNP (classic)	rs121913608
ClinGen	rs121913608
ebi	rs121913608
HLI	rs121913608
Exac	rs121913608
Gnomad	rs121913608
Varsome	rs121913608
LitVar	rs121913608
Map	rs121913608
PheGenI	rs121913608
Biobank	rs121913608
1000 genomes	rs121913608
hgdp	rs121913608
ensembl	rs121913608
geneview	rs121913608
scholar	rs121913608
google	rs121913608
pharmgkb	rs121913608
gwascentral	rs121913608
openSNP	rs121913608
23andMe	rs121913608
SNPshot	rs121913608
SNPdbe	rs121913608
MSV3d	rs121913608
GWAS Ctlg	rs121913608

Max Magnitude

0

OMIM	159440
Desc
Variant	0033
Related	also

ClinVar
Risk	rs121913608(A;A)
Alt	rs121913608(A;A)
Reference	Rs121913608(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed	1
HGVS	NC_000001.10:g.161276579C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015262.26,