rs121913585

Orientation

minus

Stabilized

minus

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

Make rs121913585(C;G)

Make rs121913585(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307304

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913585
dbSNP (classic)	rs121913585
ClinGen	rs121913585
ebi	rs121913585
HLI	rs121913585
Exac	rs121913585
Gnomad	rs121913585
Varsome	rs121913585
LitVar	rs121913585
Map	rs121913585
PheGenI	rs121913585
Biobank	rs121913585
1000 genomes	rs121913585
hgdp	rs121913585
ensembl	rs121913585
geneview	rs121913585
scholar	rs121913585
google	rs121913585
pharmgkb	rs121913585
gwascentral	rs121913585
openSNP	rs121913585
23andMe	rs121913585
SNPshot	rs121913585
SNPdbe	rs121913585
MSV3d	rs121913585
GWAS Ctlg	rs121913585

Merged from

Rs121913592

Max Magnitude

0

OMIM	159440
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121913585(G;G) rs121913585(T;T)
Alt	rs121913585(G;G) rs121913585(T;T)
Reference	Rs121913585(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Dejerine-Sottas syndrome not provided
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b Dejerine-Sottas syndrome, autosomal dominant not provided
Reversed	1
HGVS	NC_000001.10:g.161277094G>A; NC_000001.10:g.161277094G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015240.26, RCV000015232.21, RCV000390750.1,