Gene: ABCG8 ×
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: rs6544713
rs6544713
ABCG8
5 0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75 0.800 1.000 2 2013 2018
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.710 1.000 3 2015 2018
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs41360247
rs41360247
ABCG8 ; LOC102725159
3 0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs4245791
rs4245791
ABCG8
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2010 2010