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 0.050 1.000 5 2003 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 1.000 5 2003 2015
dbSNP: rs587778718
rs587778718
2 1.000 0.080 17 7674959 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019