rs137854495
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137854495(C;T) |
Make rs137854495(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104822514 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854495 |
dbSNP (classic) | rs137854495 |
ClinGen | rs137854495 |
ebi | rs137854495 |
HLI | rs137854495 |
Exac | rs137854495 |
Gnomad | rs137854495 |
Varsome | rs137854495 |
LitVar | rs137854495 |
Map | rs137854495 |
PheGenI | rs137854495 |
Biobank | rs137854495 |
1000 genomes | rs137854495 |
hgdp | rs137854495 |
ensembl | rs137854495 |
geneview | rs137854495 |
scholar | rs137854495 |
rs137854495 | |
pharmgkb | rs137854495 |
gwascentral | rs137854495 |
openSNP | rs137854495 |
23andMe | rs137854495 |
SNPshot | rs137854495 |
SNPdbe | rs137854495 |
MSV3d | rs137854495 |
GWAS Ctlg | rs137854495 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854495(T;T) |
Alt | rs137854495(T;T) |
Reference | Rs137854495(C;C) |
Significance | Pathogenic |
Disease | Tangier disease |
Variation | info |
Gene | ABCA1 |
CLNDBN | Tangier disease |
Reversed | 1 |
HGVS | NC_000009.11:g.107584795G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010097.4, |