rs120074111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs120074111(A;A) |
Make rs120074111(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 44948822 |
Gene | APOC2, APOC4-APOC2 |
is a | snp |
is | mentioned by |
dbSNP | rs120074111 |
dbSNP (classic) | rs120074111 |
ClinGen | rs120074111 |
ebi | rs120074111 |
HLI | rs120074111 |
Exac | rs120074111 |
Gnomad | rs120074111 |
Varsome | rs120074111 |
LitVar | rs120074111 |
Map | rs120074111 |
PheGenI | rs120074111 |
Biobank | rs120074111 |
1000 genomes | rs120074111 |
hgdp | rs120074111 |
ensembl | rs120074111 |
geneview | rs120074111 |
scholar | rs120074111 |
rs120074111 | |
pharmgkb | rs120074111 |
gwascentral | rs120074111 |
openSNP | rs120074111 |
23andMe | rs120074111 |
SNPshot | rs120074111 |
SNPdbe | rs120074111 |
MSV3d | rs120074111 |
GWAS Ctlg | rs120074111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074111(A;A) rs120074111(G;G) rs120074111(T;T) |
Alt | rs120074111(A;A) rs120074111(G;G) rs120074111(T;T) |
Reference | Rs120074111(C;C) |
Significance | Pathogenic |
Disease | APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI) |
Variation | info |
Gene | APOC2 APOC4-APOC2 |
CLNDBN | APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI) |
Reversed | 0 |
HGVS | NC_000019.9:g.45452079C>A; NC_000019.9:g.45452079C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002683.2, RCV000002684.2, RCV000002695.2, RCV000002696.2, |