rs267607242

Orientation

minus

Stabilized

minus

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

Make rs267607242(A;C)

Make rs267607242(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306810

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607242
dbSNP (classic)	rs267607242
ClinGen	rs267607242
ebi	rs267607242
HLI	rs267607242
Exac	rs267607242
Gnomad	rs267607242
Varsome	rs267607242
LitVar	rs267607242
Map	rs267607242
PheGenI	rs267607242
Biobank	rs267607242
1000 genomes	rs267607242
hgdp	rs267607242
ensembl	rs267607242
geneview	rs267607242
scholar	rs267607242
google	rs267607242
pharmgkb	rs267607242
gwascentral	rs267607242
openSNP	rs267607242
23andMe	rs267607242
SNPshot	rs267607242
SNPdbe	rs267607242
MSV3d	rs267607242
GWAS Ctlg	rs267607242

Max Magnitude

0

ClinVar
Risk	rs267607242(C;C)
Alt	rs267607242(C;C)
Reference	Rs267607242(A;A)
Significance	Pathogenic
Disease	Dejerine-sottas syndrome
Variation	info
Gene	MPZ
CLNDBN	Dejerine-sottas syndrome, sporadic
Reversed	1
HGVS	NC_000001.10:g.161276600T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015243.22,