rs121913586

Orientation

minus

Stabilized

minus

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

Make rs121913586(C;C)

Make rs121913586(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306414

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913586
dbSNP (classic)	rs121913586
ClinGen	rs121913586
ebi	rs121913586
HLI	rs121913586
Exac	rs121913586
Gnomad	rs121913586
Varsome	rs121913586
LitVar	rs121913586
Map	rs121913586
PheGenI	rs121913586
Biobank	rs121913586
1000 genomes	rs121913586
hgdp	rs121913586
ensembl	rs121913586
geneview	rs121913586
scholar	rs121913586
google	rs121913586
pharmgkb	rs121913586
gwascentral	rs121913586
openSNP	rs121913586
23andMe	rs121913586
SNPshot	rs121913586
SNPdbe	rs121913586
MSV3d	rs121913586
GWAS Ctlg	rs121913586

Max Magnitude

0

OMIM	159440
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913586(A;A) rs121913586(C;C)
Alt	rs121913586(A;A) rs121913586(C;C)
Reference	Rs121913586(G;G)
Significance	Pathogenic
Disease	Dejerine-Sottas syndrome Dejerine-Sottas disease Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Congenital hypomyelinating neuropathy Roussy-Lévy syndrome
Variation	info
Gene	MPZ
CLNDBN	Dejerine-Sottas syndrome, autosomal dominant Dejerine-Sottas disease Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Congenital hypomyelinating neuropathy Roussy-Lévy syndrome
Reversed	1
HGVS	NC_000001.10:g.161276204C>G; NC_000001.10:g.161276204C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015233.25, RCV000032123.1, RCV000198029.1, RCV000194294.1,