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: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4953023
rs4953023
ABCG8
6 0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs6544718
rs6544718
ABCG8
4 0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs686030
rs686030
TTC39B
3 9 15304784 intron variant C/A snv 0.88 0.010 1.000 1 2016 2016