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: rs121909103
rs121909103
ATP8B1 ; LOC100505549
2 0.925 0.080 18 57661282 missense variant G/A snv 4.0E-06 0.800 1.000 3 2005 2009
dbSNP: rs146599962
rs146599962
ATP8B1 ; LOC105372141
1 1.000 18 57731674 missense variant T/G snv 4.7E-03 4.9E-03 0.700 1.000 3 2005 2009
dbSNP: rs56355310
rs56355310
ATP8B1
1 1.000 18 57697815 missense variant T/C snv 8.9E-04 9.3E-04 0.700 1.000 3 2005 2009
dbSNP: rs34719006
rs34719006
ATP8B1
3 0.882 0.080 18 57706561 missense variant C/A;T snv 1.2E-05; 3.2E-03 0.700 0