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.
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
19 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016