Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116040763
rs116040763
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0398686
Disease:
Primary immune deficiency disorder
T 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564 2019
dbSNP: rs1561772403
rs1561772403
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0398686
Disease:
Primary immune deficiency disorder
T 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564 2019
dbSNP: rs1561780980
rs1561780980
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0398686
Disease:
Primary immune deficiency disorder
A 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564 2019
dbSNP: rs374657927
rs374657927
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0398686
Disease:
Primary immune deficiency disorder
A 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564 2019
dbSNP: rs752183065
rs752183065
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0398686
Disease:
Primary immune deficiency disorder
C 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564 2019
dbSNP: rs17513478
rs17513478
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17513478
rs17513478
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17513478
rs17513478
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17513478
rs17513478
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17513478
rs17513478
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17548308
rs17548308
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17548308
rs17548308
Entrez Id: 8737;107986556
Gene Symbol: RIPK1;LOC107986556
RIPK1;LOC107986556
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1561772403
rs1561772403
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C4748212
Disease:
IMMUNODEFICIENCY 57
T 0.700 GeneticVariation CLINVAR
dbSNP: rs758268804
rs758268804
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
0.700 GeneticVariation UNIPROT
dbSNP: rs759012409
rs759012409
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
0.700 GeneticVariation UNIPROT
dbSNP: rs774996232
rs774996232
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
0.700 GeneticVariation UNIPROT
dbSNP: rs372626426
rs372626426
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Furthermore, RIPK1- and RIPK3-mediated axonal pathology was commonly observed in SOD1(G93A) transgenic mice and pathological samples from human ALS patients. 27493188 2016
dbSNP: rs2272990
rs2272990
Entrez Id: 8737
Gene Symbol: RIPK1
RIPK1
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE The polymorphisms of LTA (rs1041981) and RIPK1 (rs2272990) may correlate with TTP in patients with DLBCL treated with R-CHOP. 19629486 2010