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: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.700 0
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.929 14 2002 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.909 11 2002 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.909 11 2002 2016
dbSNP: rs587782329
rs587782329
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.020 1.000 2 2000 2004
dbSNP: rs786202962
rs786202962
21 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004