rs137852987
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852987(A;A) |
Make rs137852987(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 43872094 |
Gene | ABCG8 |
is a | snp |
is | mentioned by |
dbSNP | rs137852987 |
dbSNP (classic) | rs137852987 |
ClinGen | rs137852987 |
ebi | rs137852987 |
HLI | rs137852987 |
Exac | rs137852987 |
Gnomad | rs137852987 |
Varsome | rs137852987 |
LitVar | rs137852987 |
Map | rs137852987 |
PheGenI | rs137852987 |
Biobank | rs137852987 |
1000 genomes | rs137852987 |
hgdp | rs137852987 |
ensembl | rs137852987 |
geneview | rs137852987 |
scholar | rs137852987 |
rs137852987 | |
pharmgkb | rs137852987 |
gwascentral | rs137852987 |
openSNP | rs137852987 |
23andMe | rs137852987 |
SNPshot | rs137852987 |
SNPdbe | rs137852987 |
MSV3d | rs137852987 |
GWAS Ctlg | rs137852987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852987(A;A) rs137852987(T;T) |
Alt | rs137852987(A;A) rs137852987(T;T) |
Reference | Rs137852987(G;G) |
Significance | Pathogenic |
Disease | Sitosterolemia not provided |
Variation | info |
Gene | ABCG8 |
CLNDBN | Sitosterolemia not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.44099233G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005255.4, RCV000255446.1, |