rs146262009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146262009(C;T) |
Make rs146262009(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 100106278 |
Gene | AP4M1 |
is a | snp |
is | mentioned by |
dbSNP | rs146262009 |
dbSNP (classic) | rs146262009 |
ClinGen | rs146262009 |
ebi | rs146262009 |
HLI | rs146262009 |
Exac | rs146262009 |
Gnomad | rs146262009 |
Varsome | rs146262009 |
LitVar | rs146262009 |
Map | rs146262009 |
PheGenI | rs146262009 |
Biobank | rs146262009 |
1000 genomes | rs146262009 |
hgdp | rs146262009 |
ensembl | rs146262009 |
geneview | rs146262009 |
scholar | rs146262009 |
rs146262009 | |
pharmgkb | rs146262009 |
gwascentral | rs146262009 |
openSNP | rs146262009 |
23andMe | rs146262009 |
SNPshot | rs146262009 |
SNPdbe | rs146262009 |
MSV3d | rs146262009 |
GWAS Ctlg | rs146262009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146262009(T;T) |
Alt | rs146262009(T;T) |
Reference | Rs146262009(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 50 |
Variation | info |
Gene | AP4M1 |
CLNDBN | Spastic paraplegia 50, autosomal recessive |
Reversed | 0 |
HGVS | NC_000007.13:g.99703901C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191922.2, |