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 0.030 1.000 3 2009 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2016
dbSNP: rs1453167097
rs1453167097
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs750893877
rs750893877
7 0.807 0.320 17 7674258 synonymous variant G/A snv 8.0E-06 0.010 1.000 1 2017 2017