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 0.080 1.000 8 2010 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.020 0.500 2 2011 2011
dbSNP: rs587783064
rs587783064
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 1.000 1 2006 2006