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.
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
69 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
51 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
MACULAR DEGENERATION, AGE-RELATED, 5
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
5 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
PREMATURE OVARIAN FAILURE 11
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
6 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
UV-SENSITIVE SYNDROME 1
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
5 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0