rs387906415
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCCG;CCCG) | 0 | common in clinvar |
(CGCC;CGCC) | 0 | common/normal |
(GCCC;GCCC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs387906415(-;-) |
Make rs387906415(-;CGCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104814169 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906415 |
dbSNP (classic) | rs387906415 |
ClinGen | rs387906415 |
ebi | rs387906415 |
HLI | rs387906415 |
Exac | rs387906415 |
Gnomad | rs387906415 |
Varsome | rs387906415 |
LitVar | rs387906415 |
Map | rs387906415 |
PheGenI | rs387906415 |
Biobank | rs387906415 |
1000 genomes | rs387906415 |
hgdp | rs387906415 |
ensembl | rs387906415 |
geneview | rs387906415 |
scholar | rs387906415 |
rs387906415 | |
pharmgkb | rs387906415 |
gwascentral | rs387906415 |
openSNP | rs387906415 |
23andMe | rs387906415 |
SNPshot | rs387906415 |
SNPdbe | rs387906415 |
MSV3d | rs387906415 |
GWAS Ctlg | rs387906415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906415(-;-) |
Alt | rs387906415(-;-) |
Reference | Rs387906415(CCCG;CCCG) |
Significance | Pathogenic |
Disease | Familial hypoalphalipoproteinemia |
Variation | info |
Gene | ABCA1 |
CLNDBN | Familial hypoalphalipoproteinemia |
Reversed | 1 |
HGVS | NC_000009.11:g.107576450_107576453delGGCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010112.2, |