Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514756
rs397514756
ABCB6
2 0.925 0.120 2 219216084 missense variant A/G snv 0.800 1.000 4 2013 2014
dbSNP: rs397514757
rs397514757
ABCB6
1 1.000 2 219218166 missense variant T/C snv 0.800 1.000 4 2013 2014
dbSNP: rs397514758
rs397514758
ABCB6
2 0.925 0.120 2 219213310 missense variant C/T snv 0.800 1.000 4 2013 2014
dbSNP: rs796065353
rs796065353
ABCB6
1 1.000 2 219213495 stop gained G/A;T snv 0.800 1.000 4 2013 2014