rs758568142, ABCA12

N. diseases: 4
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.
Eclabion
CUI: C3550430
Disease: Eclabion
2 0.925 0.120 2 215019335 splice donor variant C/A;T snv 4.0E-06 0.700 0
Ectropion
CUI: C0013592
Disease: Ectropion
3 0.925 0.120 2 215019335 splice donor variant C/A;T snv 4.0E-06 0.700 0
Hypothermia, natural
CUI: C0020672
Disease: Hypothermia, natural
3 0.925 0.120 2 215019335 splice donor variant C/A;T snv 4.0E-06 0.700 0
Lamellar ichthyosis, type 2
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
12 0.925 0.120 2 215019335 splice donor variant C/A;T snv 4.0E-06 0.700 0