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: rs575266356
rs575266356
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05 0.710 1.000 4 2001 2004
dbSNP: rs119480069
rs119480069
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05 0.710 1.000 1 2010 2010
dbSNP: rs199689137
rs199689137
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43822924 stop gained G/A;C;T snv 1.8E-04; 8.0E-06; 4.0E-06 0.700 1.000 13 2007 2018
dbSNP: rs137852988
rs137852988
ABCG8
2 1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04 0.700 1.000 3 2000 2004
dbSNP: rs137852990
rs137852990
ABCG8
1 1.000 0.120 2 43852692 missense variant G/A snv 1.4E-04 6.3E-05 0.700 1.000 3 2000 2004
dbSNP: rs137852992
rs137852992
ABCG8
1 1.000 0.120 2 43877591 missense variant T/G snv 7.0E-06 0.700 1.000 3 2000 2004
dbSNP: rs137852993
rs137852993
ABCG8
1 1.000 0.120 2 43852483 missense variant C/A snv 4.0E-06 0.700 1.000 3 2000 2004
dbSNP: rs201690654
rs201690654
ABCG8
1 1.000 0.120 2 43875286 missense variant G/T snv 2.1E-04 1.8E-04 0.700 1.000 3 2000 2004
dbSNP: rs34754243
rs34754243
ABCG8
1 1.000 0.120 2 43852616 missense variant G/A snv 8.9E-04 9.8E-04 0.700 1.000 3 2000 2004
dbSNP: rs766212636
rs766212636
ABCG8
1 1.000 0.120 2 43851812 missense variant G/A snv 2.0E-05 8.4E-05 0.700 1.000 3 2000 2004
dbSNP: rs769576789
rs769576789
ABCG8
1 1.000 0.120 2 43875372 missense variant T/C snv 9.6E-05 9.1E-05 0.700 1.000 3 2000 2004
dbSNP: rs957176669
rs957176669
ABCG8
1 1.000 0.120 2 43871975 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1177309800
rs1177309800
ABCG8
1 1.000 0.120 2 43873789 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs119479067
rs119479067
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43823981 missense variant C/G;T snv 2.4E-05 0.700 0
dbSNP: rs1233989408
rs1233989408
ABCG8
1 1.000 0.120 2 43875159 missense variant T/C snv 0.700 0
dbSNP: rs1325979386
rs1325979386
ABCG8
1 1.000 0.120 2 43875378 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs758551848
rs758551848
ABCG5 ; ABCG8
1 1.000 0.120 2 43831834 stop gained C/A;G snv 0.700 0
dbSNP: rs869025350
rs869025350
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43824359 frameshift variant T/- delins 0.700 0
dbSNP: rs1014715108
rs1014715108
DYNC2LI1 ; ABCG5
1 1.000 0.120 2 43824350 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs137854891
rs137854891
ABCG8 ; LOC102725159
1 1.000 0.120 2 43846309 stop gained C/G snv 1.6E-05 0.010 1.000 1 2004 2004