Disease: Cholestasis of pregnancy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375315619
rs375315619
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0268318
Disease:
Cholestasis of pregnancy 		0.010 GeneticVariation BEFREE Moreover, the already described mutation p.N510S found in ABCB4 seems to be strictly involved in the onset of ICP in that particular patient. 23022423 2013
dbSNP: rs1202283
rs1202283
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0268318
Disease:
Cholestasis of pregnancy 		0.010 GeneticVariation BEFREE An association was also found between allele T of the c.504T>C silent nucleotide polymorphism and ICP (68.0% vs 53.7%; p = 0.017; OR 1.83, 95% CI 1.08 to 3.11). 19584064 2009
dbSNP: rs2230028
rs2230028
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0268318
Disease:
Cholestasis of pregnancy 		0.010 GeneticVariation BEFREE The chromosomal frequency of the p.Arg652Gly variant did not differ between the ICP and control group (p = 0.40). 19584064 2009
dbSNP: rs45575636
rs45575636
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0268318
Disease:
Cholestasis of pregnancy 		0.010 GeneticVariation BEFREE The chromosomal frequency of the p.Arg590Gln variant was significantly different between the ICP and control group (7.0% vs 0.5%; p = 0.0017; OR 16.03, 95% CI 1.94 to 132.16). 19584064 2009