rs121913603

Orientation

minus

Stabilized

minus

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

Make rs121913603(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306722

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913603
dbSNP (classic)	rs121913603
ClinGen	rs121913603
ebi	rs121913603
HLI	rs121913603
Exac	rs121913603
Gnomad	rs121913603
Varsome	rs121913603
LitVar	rs121913603
Map	rs121913603
PheGenI	rs121913603
Biobank	rs121913603
1000 genomes	rs121913603
hgdp	rs121913603
ensembl	rs121913603
geneview	rs121913603
scholar	rs121913603
google	rs121913603
pharmgkb	rs121913603
gwascentral	rs121913603
openSNP	rs121913603
23andMe	rs121913603
SNPshot	rs121913603
SNPdbe	rs121913603
MSV3d	rs121913603
GWAS Ctlg	rs121913603

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0026
Related	also

ClinVar
Risk	rs121913603(C;C)
Alt	rs121913603(C;C)
Reference	Rs121913603(A;A)
Significance	Pathogenic
Disease	not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	not provided Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I
Reversed	1
HGVS	NC_000001.10:g.161276512T>C; NC_000001.10:g.161276512T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000494031.1, RCV000015255.25, RCV000234112.1, RCV000235936.1,