Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7303112
rs7303112
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs117235991
rs117235991
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C1269683
Disease:
Major Depressive Disorder 		0.010 GeneticVariation BEFREE In addition, the E777K and N782T variants were found at low frequencies both in patients and population controls, suggesting that these variants have limited impact on risk for MDD. 19455599 2010
dbSNP: rs138526583
rs138526583
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C1269683
Disease:
Major Depressive Disorder 		0.010 GeneticVariation BEFREE In addition, the E777K and N782T variants were found at low frequencies both in patients and population controls, suggesting that these variants have limited impact on risk for MDD. 19455599 2010
dbSNP: rs141157255
rs141157255
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
dbSNP: rs141157255
rs141157255
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C1739405
Disease:
CML progression 		0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
dbSNP: rs141157255
rs141157255
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C0005699
Disease:
Blast Phase 		0.010 GeneticVariation BEFREE Apaf1 in chronic myelogenous leukemia (CML) progression: reduced Apaf1 expression is correlated with a H179R p53 mutation during clinical blast crisis. 17361096 2007
dbSNP: rs746482334
rs746482334
Entrez Id: 317;56899
Gene Symbol: APAF1;ANKS1B
APAF1;ANKS1B
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE The remaining variant (E266K), which exhibited an allele frequency of 0.28, was not associated with CD, UC, or IBD. 12477763 2003
dbSNP: rs1476273292
rs1476273292
Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) in the gene were demonstrated to be associated with CD. 12019468 2002