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: rs28928893
rs28928893
3 0.882 0.120 17 41586479 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs80358206
rs80358206
2 0.925 0.080 1 34761665 missense variant C/A;T snv 1.7E-04 0.010 1.000 1 2003 2003
dbSNP: rs80358207
rs80358207
2 0.925 0.080 1 34761663 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs28931593
rs28931593
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs587777534
rs587777534
3 0.882 0.160 11 88296207 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1209085120
rs1209085120
1 1.000 0.080 7 6023402 missense variant A/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs150577396
rs150577396
1 1.000 0.080 8 100287609 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs58075662
rs58075662
2 0.925 0.120 17 40822119 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs201053854
rs201053854
2 0.925 0.200 19 36058791 missense variant G/T snv 6.6E-04 1.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs774912957
rs774912957
2 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs57837128
rs57837128
3 0.882 0.120 12 52676314 missense variant A/G snv 0.010 1.000 1 2018 2018