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: rs1966862
rs1966862
ARHGAP24
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1214110864
rs1214110864
ABCB4
2 1.000 0.040 7 87408071 missense variant A/T snv 0.010 1.000 1 2007 2007
dbSNP: rs80292941
rs80292941
CYTOR ; LOC101928152
2 1.000 0.040 2 87480257 non coding transcript exon variant A/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs117806152
rs117806152
BDKRB2
1 14 96214520 intron variant A/C snv 1.2E-03 0.010 1.000 1 2019 2019