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: rs786204684
rs786204684
4 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 1.000 5 2002 2007
dbSNP: rs199476103
rs199476103
4 0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03 0.700 1.000 3 2002 2007
dbSNP: rs121909638
rs121909638
3 0.882 0.280 8 38421853 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs551450545
rs551450545
2 0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05 0.700 1.000 9 2002 2016
dbSNP: rs727502776
rs727502776
2 0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04 0.700 1.000 9 2001 2015
dbSNP: rs1554651543
rs1554651543
2 0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins 0.700 1.000 5 2001 2010
dbSNP: rs753874439
rs753874439
2 0.925 0.200 9 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05 0.700 1.000 5 2002 2010
dbSNP: rs781730798
rs781730798
2 0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins 0.700 1.000 5 2001 2008
dbSNP: rs1554651413
rs1554651413
2 0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651489
rs1554651489
2 0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG delins 0.700 1.000 4 2001 2007
dbSNP: rs948931144
rs948931144
2 0.925 0.200 9 35657823 non coding transcript exon variant G/A;C;T snv 6.9E-05; 7.7E-06 0.700 1.000 4 2002 2007
dbSNP: rs1554651507
rs1554651507
2 0.925 0.200 9 35658030 upstream gene variant -/TCACAGAGTA delins 0.700 1.000 3 2001 2005
dbSNP: rs751921616
rs751921616
2 0.925 0.200 9 35658026 upstream gene variant -/CTTCACAGAGTAG;CTTCACAGAGTAGCTTCACAGAGTAG delins 7.9E-06; 6.3E-05; 7.9E-06; 7.9E-06; 1.6E-05; 3.2E-05 0.700 1.000 2 2005 2017
dbSNP: rs936059863
rs936059863
2 0.925 0.200 9 35657800 non coding transcript exon variant T/C;G snv 1.5E-05; 7.7E-06 0.700 1.000 2 2003 2007
dbSNP: rs121912521
rs121912521
2 0.925 0.200 2 48688067 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs878854358
rs878854358
EBP
2 0.925 0.160 X 48523804 stop gained C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1554651404
rs1554651404
2 0.925 0.200 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAG delins 0.700 0
dbSNP: rs1554651469
rs1554651469
2 0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT delins 0.700 0
dbSNP: rs1563907946
rs1563907946
2 0.925 0.200 9 35658023 upstream gene variant -/TCAGCTTC delins 0.700 0
dbSNP: rs772443941
rs772443941
1 1.000 0.160 9 35658014 non coding transcript exon variant G/A snv 1.1E-04 9.8E-05 0.700 1.000 9 2002 2015
dbSNP: rs1554651506
rs1554651506
1 1.000 0.160 9 35658030 upstream gene variant -/TCACAGA delins 0.700 1.000 8 2001 2008
dbSNP: rs1554651411
rs1554651411
1 1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGTAGT;GTCCTCAGCTTCACAGAGTAGT delins 0.700 1.000 6 2001 2007
dbSNP: rs1554651153
rs1554651153
1 1.000 0.160 9 35657836 non coding transcript exon variant C/A;G;T snv 0.700 1.000 5 2005 2015
dbSNP: rs1554651499
rs1554651499
1 1.000 0.160 9 35658029 upstream gene variant -/CACAGAGTAGTATT delins 0.700 1.000 5 2001 2010
dbSNP: rs727502778
rs727502778
1 1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGT delins 2.4E-04; 3.1E-05; 6.3E-05; 7.9E-06; 7.9E-06; 7.9E-06 0.700 1.000 5 2001 2007