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.
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
CUI: C1845069
Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
2 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 1997 1997
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 1997 1997
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011