rs121913601

Orientation

minus

Stabilized

minus

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

Make rs121913601(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307259

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913601
dbSNP (classic)	rs121913601
ClinGen	rs121913601
ebi	rs121913601
HLI	rs121913601
Exac	rs121913601
Gnomad	rs121913601
Varsome	rs121913601
LitVar	rs121913601
Map	rs121913601
PheGenI	rs121913601
Biobank	rs121913601
1000 genomes	rs121913601
hgdp	rs121913601
ensembl	rs121913601
geneview	rs121913601
scholar	rs121913601
google	rs121913601
pharmgkb	rs121913601
gwascentral	rs121913601
openSNP	rs121913601
23andMe	rs121913601
SNPshot	rs121913601
SNPdbe	rs121913601
MSV3d	rs121913601
GWAS Ctlg	rs121913601

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121913601(G;G) rs121913601(T;T)
Alt	rs121913601(G;G) rs121913601(T;T)
Reference	Rs121913601(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths Charcot-Marie-Tooth disease, demyelinating, type 1b not provided Charcot-Marie-Tooth disease, type I
Reversed	1
HGVS	NC_000001.10:g.161277049G>A; NC_000001.10:g.161277049G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015252.22, RCV000201182.2, RCV000436362.1, RCV000470689.1,