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: rs72552778
rs72552778
ABCB4
5 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.700 1.000 10 2001 2016
dbSNP: rs121918440
rs121918440
ABCB4
3 0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05 0.700 1.000 2 1998 2018
dbSNP: rs759202962
rs759202962
ABCB4
3 0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06 0.700 0