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 0.060 0.667 6 2007 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.667 6 2007 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.667 6 2007 2016
dbSNP: rs138983188
rs138983188
2 0.925 0.080 17 7674863 missense variant G/A;T snv 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs1057520005
rs1057520005
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.020 1.000 2 2013 2016
dbSNP: rs1060501201
rs1060501201
4 0.925 0.080 17 7674190 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs143458271
rs143458271
2 0.925 0.080 17 7676589 synonymous variant C/T snv 9.2E-05 8.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs267605077
rs267605077
3 0.925 0.080 17 7675212 missense variant A/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2016 2016