Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1127354
rs1127354
ITPA
CUI: C0002871
Disease: Anemia
Anemia 		A 0.900 GeneticVariation GWASCAT Multivariate analysis demonstrated that age, baseline Hb, baseline platelet count, and rs1127354 were independently associated with severe anemia (Hb <10 g/dL). 20637204

2010
dbSNP: rs1127354
rs1127354
ITPA
CUI: C0002871
Disease: Anemia
Anemia 		A 0.900 GeneticVariation GWASDB Multivariate analysis demonstrated that age, baseline Hb, baseline platelet count, and rs1127354 were independently associated with severe anemia (Hb <10 g/dL). 20637204

2010
dbSNP: rs1057516674
rs1057516674
G6PC
CUI: C0002871
Disease: Anemia
Anemia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057520529
rs1057520529
FOXP3
CUI: C0002871
Disease: Anemia
Anemia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499688
rs1060499688
GNPTAB
CUI: C0002871
Disease: Anemia
Anemia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
CUI: C0002871
Disease: Anemia
Anemia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554544862
rs1554544862
ANK1
CUI: C0002871
Disease: Anemia
Anemia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1559810905
rs1559810905
IFIH1
CUI: C0002871
Disease: Anemia
Anemia 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs33950507
rs33950507
HBB
CUI: C0002871
Disease: Anemia
Anemia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs41469945
rs41469945
HBA2
CUI: C0002871
Disease: Anemia
Anemia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs747506979
rs747506979
GBA
CUI: C0002871
Disease: Anemia
Anemia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs76992529
rs76992529
TTR
CUI: C0002871
Disease: Anemia
Anemia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs776035233
rs776035233
LCAT
CUI: C0002871
Disease: Anemia
Anemia 		T 0.700 CausalMutation CLINVAR Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 31164121

2019
dbSNP: rs779114194
rs779114194
LCAT
CUI: C0002871
Disease: Anemia
Anemia 		C 0.700 CausalMutation CLINVAR Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 31164121

2019
dbSNP: rs878853314
rs878853314
GBA
CUI: C0002871
Disease: Anemia
Anemia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
CUI: C0002871
Disease: Anemia
Anemia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs987710
rs987710
IGLV10-54
CUI: C0002871
Disease: Anemia
Anemia 		0.700 GeneticVariation GWASCAT Genome-wide association study identifies genetic loci associated with iron deficiency. 21483845

2011