rs137854496
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137854496(C;C) |
Make rs137854496(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104831048 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854496 |
dbSNP (classic) | rs137854496 |
ClinGen | rs137854496 |
ebi | rs137854496 |
HLI | rs137854496 |
Exac | rs137854496 |
Gnomad | rs137854496 |
Varsome | rs137854496 |
LitVar | rs137854496 |
Map | rs137854496 |
PheGenI | rs137854496 |
Biobank | rs137854496 |
1000 genomes | rs137854496 |
hgdp | rs137854496 |
ensembl | rs137854496 |
geneview | rs137854496 |
scholar | rs137854496 |
rs137854496 | |
pharmgkb | rs137854496 |
gwascentral | rs137854496 |
openSNP | rs137854496 |
23andMe | rs137854496 |
SNPshot | rs137854496 |
SNPdbe | rs137854496 |
MSV3d | rs137854496 |
GWAS Ctlg | rs137854496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854496(C;C) rs137854496(T;T) |
Alt | rs137854496(C;C) rs137854496(T;T) |
Reference | Rs137854496(G;G) |
Significance | Pathogenic |
Disease | Tangier disease ABCA1-Related Disorders |
Variation | info |
Gene | ABCA1 |
CLNDBN | Tangier disease ABCA1-Related Disorders |
Reversed | 1 |
HGVS | NC_000009.11:g.107593329C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010098.3, RCV000381095.1, |