rs281865123

Orientation

minus

Stabilized

minus

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

Make rs281865123(C;T)

Make rs281865123(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306915

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs281865123
dbSNP (classic)	rs281865123
ClinGen	rs281865123
ebi	rs281865123
HLI	rs281865123
Exac	rs281865123
Gnomad	rs281865123
Varsome	rs281865123
LitVar	rs281865123
Map	rs281865123
PheGenI	rs281865123
Biobank	rs281865123
1000 genomes	rs281865123
hgdp	rs281865123
ensembl	rs281865123
geneview	rs281865123
scholar	rs281865123
google	rs281865123
pharmgkb	rs281865123
gwascentral	rs281865123
openSNP	rs281865123
23andMe	rs281865123
SNPshot	rs281865123
SNPdbe	rs281865123
MSV3d	rs281865123
GWAS Ctlg	rs281865123

Max Magnitude

0

ClinVar
Risk	rs281865123(T;T)
Alt	rs281865123(T;T)
Reference	Rs281865123(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed	1
HGVS	NC_000001.10:g.161276705G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033913.1, RCV000194363.1,