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 1
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
26 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 1.000 1 2016 2016
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
9 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
Vasculopathy, Retinal, With Cerebral Leukodystrophy
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
9 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
Chilblains
CUI: C0008058
Disease: Chilblains
4 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017