rs28937313
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28937313(A;G) |
Make rs28937313(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104822520 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28937313 |
dbSNP (classic) | rs28937313 |
ClinGen | rs28937313 |
ebi | rs28937313 |
HLI | rs28937313 |
Exac | rs28937313 |
Gnomad | rs28937313 |
Varsome | rs28937313 |
LitVar | rs28937313 |
Map | rs28937313 |
PheGenI | rs28937313 |
Biobank | rs28937313 |
1000 genomes | rs28937313 |
hgdp | rs28937313 |
ensembl | rs28937313 |
geneview | rs28937313 |
scholar | rs28937313 |
rs28937313 | |
pharmgkb | rs28937313 |
gwascentral | rs28937313 |
openSNP | rs28937313 |
23andMe | rs28937313 |
SNPshot | rs28937313 |
SNPdbe | rs28937313 |
MSV3d | rs28937313 |
GWAS Ctlg | rs28937313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937313(G;G) |
Alt | rs28937313(G;G) |
Reference | Rs28937313(A;A) |
Significance | Pathogenic |
Disease | Tangier disease |
Variation | info |
Gene | ABCA1 |
CLNDBN | Tangier disease |
Reversed | 1 |
HGVS | NC_000009.11:g.107584801T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010096.5, |