rs267607243

Orientation

minus

Stabilized

minus

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

Make rs267607243(A;A)

Make rs267607243(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306774

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607243
dbSNP (classic)	rs267607243
ClinGen	rs267607243
ebi	rs267607243
HLI	rs267607243
Exac	rs267607243
Gnomad	rs267607243
Varsome	rs267607243
LitVar	rs267607243
Map	rs267607243
PheGenI	rs267607243
Biobank	rs267607243
1000 genomes	rs267607243
hgdp	rs267607243
ensembl	rs267607243
geneview	rs267607243
scholar	rs267607243
google	rs267607243
pharmgkb	rs267607243
gwascentral	rs267607243
openSNP	rs267607243
23andMe	rs267607243
SNPshot	rs267607243
SNPdbe	rs267607243
MSV3d	rs267607243
GWAS Ctlg	rs267607243

Max Magnitude

0

ClinVar
Risk	rs267607243(A;A)
Alt	rs267607243(A;A)
Reference	Rs267607243(G;G)
Significance	Pathogenic
Disease	Dejerine-sottas syndrome
Variation	info
Gene	MPZ
CLNDBN	Dejerine-sottas syndrome, sporadic
Reversed	1
HGVS	NC_000001.10:g.161276564C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015243.22,