rs397514756, ABCB6

N. diseases: 2
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.
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
4 0.925 0.120 2 219216084 missense variant A/G snv 0.800 1.000 4 2013 2014
Dyschromatosis universalis hereditaria
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
2 0.925 0.120 2 219216084 missense variant A/G snv 0.010 1.000 1 2013 2013