Source: ALL
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: rs873549
rs873549
1 1.000 0.080 1 222098425 intron variant C/T snv 0.75 0.820 1.000 2 2010 2013
dbSNP: rs1511412
rs1511412
1 1.000 0.080 3 138994862 regulatory region variant A/G;T snv 0.810 1.000 2 2010 2013
dbSNP: rs8032158
rs8032158
1 1.000 0.080 15 55902679 intron variant T/A;C snv 0.810 1.000 2 2010 2013
dbSNP: rs11130248
rs11130248
1 1.000 0.080 3 50314769 upstream gene variant A/G snv 0.10 0.800 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs141156594
rs141156594
2 0.925 0.080 18 70196537 missense variant A/C;G snv 1.6E-05; 3.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs1442440
rs1442440
1 1.000 0.080 1 222066192 upstream gene variant T/C snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs151091483
rs151091483
2 1.000 0.080 17 10409361 missense variant A/C;G;T snv 4.0E-06; 1.2E-05; 3.1E-04; 4.0E-06 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs181924090
rs181924090
2 1.000 0.080 11 218874 stop gained C/G;T snv 5.0E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs183178644
rs183178644
2 1.000 0.080 6 656415 missense variant C/G snv 1.6E-03 5.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs2271289
rs2271289
1 1.000 0.080 15 55924595 non coding transcript exon variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2012 2012
dbSNP: rs940187
rs940187
1 1.000 0.080 3 139122751 intron variant T/C snv 0.70 0.010 1.000 1 2013 2013