rs1559810905, IFIH1

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
15 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Anemia
CUI: C0002871
Disease: Anemia
94 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Lenticulostriate Vasculopathy
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
1 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Petechiae
CUI: C0031256
Disease: Petechiae
5 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020