rs28940568, ABCA12

N. diseases: 1
Source: UNIPROT ×
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.
Lamellar ichthyosis, type 2
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
10 1.000 0.080 2 214978830 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 5 2003 2012