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 0.882 0.320 3 48466947 frameshift variant -/A delins 7.2E-05 3.5E-05 0.700 1.000 2 2013 2013
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
9 0.882 0.320 3 48466947 frameshift variant -/A delins 7.2E-05 3.5E-05 0.700 0
Vasculopathy, Retinal, With Cerebral Leukodystrophy
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
9 0.882 0.320 3 48466947 frameshift variant -/A delins 7.2E-05 3.5E-05 0.700 0