rs267607247

Orientation

minus

Stabilized

minus

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

Make rs267607247(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161305953

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607247
dbSNP (classic)	rs267607247
ClinGen	rs267607247
ebi	rs267607247
HLI	rs267607247
Exac	rs267607247
Gnomad	rs267607247
Varsome	rs267607247
LitVar	rs267607247
Map	rs267607247
PheGenI	rs267607247
Biobank	rs267607247
1000 genomes	rs267607247
hgdp	rs267607247
ensembl	rs267607247
geneview	rs267607247
scholar	rs267607247
google	rs267607247
pharmgkb	rs267607247
gwascentral	rs267607247
openSNP	rs267607247
23andMe	rs267607247
SNPshot	rs267607247
SNPdbe	rs267607247
MSV3d	rs267607247
GWAS Ctlg	rs267607247

Max Magnitude

6.1

ClinVar
Risk	rs267607247(T;T)
Alt	rs267607247(T;T)
Reference	Rs267607247(G;G)
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.161275743C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033921.1,