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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 1999 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 1999 2014
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520004
rs1057520004
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.010 1.000 1 1993 1993
dbSNP: rs587782289
rs587782289
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs587783064
rs587783064
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs754332870
rs754332870
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007