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: rs758100110
rs758100110
ABCA1
2 0.925 0.120 9 104845527 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs796051872
rs796051872
ABCA1
1 1.000 0.120 9 104816142 splice donor variant C/G snv 0.700 0
dbSNP: rs796051873
rs796051873
ABCA1
1 1.000 0.120 9 104831740 stop gained AGAACTTCCTCTCA/GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT;GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG delins 0.700 0