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: rs12039904
rs12039904
1 1.000 0.040 1 173243134 intergenic variant C/T snv 0.19 0.020 1.000 2 2011 2012
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs3790566
rs3790566
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10186029
rs10186029
1 1.000 0.040 2 213064562 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10220668
rs10220668
1 1.000 0.040 14 59042487 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1035798
rs1035798
1 1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10406069
rs10406069
1 1.000 0.040 19 35345627 missense variant G/A;C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10413500
rs10413500
1 1.000 0.040 19 35345923 intron variant C/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10419538
rs10419538
1 1.000 0.040 19 35333116 intron variant C/G snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs10946216
rs10946216
1 1.000 0.040 6 167125409 intron variant T/C snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs11102522
rs11102522
1 1.000 0.040 1 112708266 intron variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11117420
rs11117420
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11171747
rs11171747
1 1.000 0.040 12 56124624 3 prime UTR variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs11217020
rs11217020
1 1.000 0.040 11 118768644 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11538960
rs11538960
1 1.000 0.040 1 112701565 missense variant C/T snv 4.2E-04 5.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs12534421
rs12534421
1 1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs1328142
rs1328142
1 1.000 0.040 9 70783498 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs16832798
rs16832798
1 1.000 0.040 2 190669646 intron variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs17340351
rs17340351
2 0.925 0.040 7 129068743 upstream gene variant T/A snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs17424921
rs17424921
1 1.000 0.040 7 129068068 upstream gene variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs17612648
rs17612648
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs2069827
rs2069827
1 1.000 0.040 7 22725837 non coding transcript exon variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2177268
rs2177268
1 1.000 0.040 3 49402292 intron variant A/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs2201584
rs2201584
1 1.000 0.040 1 67322032 intron variant G/A snv 0.14 0.700 1.000 1 2018 2018