rs121913595

Orientation

minus

Stabilized

minus

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

Make rs121913595(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306785

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913595
dbSNP (classic)	rs121913595
ClinGen	rs121913595
ebi	rs121913595
HLI	rs121913595
Exac	rs121913595
Gnomad	rs121913595
Varsome	rs121913595
LitVar	rs121913595
Map	rs121913595
PheGenI	rs121913595
Biobank	rs121913595
1000 genomes	rs121913595
hgdp	rs121913595
ensembl	rs121913595
geneview	rs121913595
scholar	rs121913595
google	rs121913595
pharmgkb	rs121913595
gwascentral	rs121913595
openSNP	rs121913595
23andMe	rs121913595
SNPshot	rs121913595
SNPdbe	rs121913595
MSV3d	rs121913595
GWAS Ctlg	rs121913595

Merged from

Rs121913607

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121913595(A;A) rs121913595(T;T)
Alt	rs121913595(A;A) rs121913595(T;T)
Reference	Rs121913595(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Neuropathy
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease Neuropathy, congenital hypomyelinating, autosomal dominant
Reversed	1
HGVS	NC_000001.10:g.161276575G>A; NC_000001.10:g.161276575G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015244.25, RCV000015245.23, RCV000192248.1, RCV000015260.22,