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: rs1052237
rs1052237
1 6 117694118 stop gained T/C;G snv 8.8E-05 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs11571319
rs11571319
1 2 203874215 downstream gene variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs1331108652
rs1331108652
1 3 138694820 stop gained G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1333739
rs1333739
1 1 64827766 intron variant A/G;T snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs1889740
rs1889740
1 1 150827279 intron variant C/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs2780889
rs2780889
1 1 64833108 3 prime UTR variant A/T snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs55882956
rs55882956
1 19 10359243 missense variant G/A;C snv 7.2E-03; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs6517774
rs6517774
1 21 17449955 non coding transcript exon variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs765797019
rs765797019
1 1 9720754 missense variant C/T snv 3.3E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs766061667
rs766061667
1 19 18168775 missense variant C/T snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs774263008
rs774263008
1 1 157697767 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs8176928
rs8176928
1 16 3656184 missense variant A/G snv 1.0E-03 4.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs8734
rs8734
1 Y 18992540 non coding transcript exon variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1020388
rs1020388
2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10460003
rs10460003
2 18 12747013 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10752747
rs10752747
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10892286
rs10892286
2 11 118771376 intron variant A/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10932019
rs10932019
2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11043097
rs11043097
2 11 11114248 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs11204735
rs11204735
2 1.000 0.080 1 150869191 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs11711054
rs11711054
2 1.000 0.080 3 46304120 intergenic variant G/A snv 0.73 0.010 1.000 1 2017 2017
dbSNP: rs1194849
rs1194849
2 2 65379519 intron variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs11984075
rs11984075
2 7 37397251 intron variant A/G snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs12115114
rs12115114
2 1.000 0.080 8 63477322 non coding transcript exon variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs12138909
rs12138909
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011