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: rs72549398
rs72549398
ABCB11
8 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2230028
rs2230028
ABCB4
5 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009