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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2014
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2011 2011
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1805034
rs1805034
12 0.742 0.360 18 62360008 missense variant C/T snv 0.54 0.56 0.010 1.000 1 2015 2015
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 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 2006 2006
dbSNP: rs3819024
rs3819024
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2007 2007