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: rs10276036
rs10276036
1 1.000 0.040 7 87550882 intron variant C/A;T snv 1.2E-05; 0.53 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs12210538
rs12210538
3 1.000 0.040 6 110438805 missense variant A/G snv 0.17 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs246221
rs246221
1 1.000 0.040 16 16044465 synonymous variant T/C;G snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4148350
rs4148350
1 1.000 0.040 16 16076620 intron variant G/T snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 < 0.001 1 2012 2012
dbSNP: rs909530
rs909530
1 1.000 0.040 1 171114034 synonymous variant C/T snv 0.29 0.32 0.010 1.000 1 2013 2013