rs120074115
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs120074115(C;C) |
Make rs120074115(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 44948787 |
Gene | APOC2, APOC4-APOC2 |
is a | snp |
is | mentioned by |
dbSNP | rs120074115 |
dbSNP (classic) | rs120074115 |
ClinGen | rs120074115 |
ebi | rs120074115 |
HLI | rs120074115 |
Exac | rs120074115 |
Gnomad | rs120074115 |
Varsome | rs120074115 |
LitVar | rs120074115 |
Map | rs120074115 |
PheGenI | rs120074115 |
Biobank | rs120074115 |
1000 genomes | rs120074115 |
hgdp | rs120074115 |
ensembl | rs120074115 |
geneview | rs120074115 |
scholar | rs120074115 |
rs120074115 | |
pharmgkb | rs120074115 |
gwascentral | rs120074115 |
openSNP | rs120074115 |
23andMe | rs120074115 |
SNPshot | rs120074115 |
SNPdbe | rs120074115 |
MSV3d | rs120074115 |
GWAS Ctlg | rs120074115 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074115(C;C) |
Alt | rs120074115(C;C) |
Reference | Rs120074115(T;T) |
Significance | Pathogenic |
Disease | APOLIPOPROTEIN C-II (WAKAYAMA) Apolipoprotein C2 deficiency |
Variation | info |
Gene | APOC2 APOC4-APOC2 |
CLNDBN | APOLIPOPROTEIN C-II (WAKAYAMA) Apolipoprotein C2 deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.45452044T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002699.2, RCV000002700.2, |