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: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 2 2011 2018
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 2 2008 2013
dbSNP: rs10091910
rs10091910
1 8 70196313 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs10761779
rs10761779
3 10 63515167 intron variant A/G snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs10819937
rs10819937
1 9 101460951 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10822161
rs10822161
1 10 63358443 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10893506
rs10893506
5 0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41 0.700 1.000 1 2018 2018
dbSNP: rs11216930
rs11216930
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.700 1.000 1 2017 2017
dbSNP: rs11573824
rs11573824
1 8 118947686 intron variant A/C;T snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs117047270
rs117047270
1 7 107664388 intron variant T/A snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs117298830
rs117298830
1 11 291521 non coding transcript exon variant A/T snv 3.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs12197384
rs12197384
1 6 24549087 intron variant C/T snv 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs12277152
rs12277152
1 11 296255 downstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12355784
rs12355784
3 10 63361805 intron variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs138612106
rs138612106
1 6 24427826 3 prime UTR variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs139089160
rs139089160
CDA
1 1 20592062 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs143370804
rs143370804
1 1 21024072 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs144391488
rs144391488
1 6 32400783 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs150674717
rs150674717
1 6 24512970 intron variant G/A snv 2.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs16856332
rs16856332
1 2 168984064 intron variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs17300770
rs17300770
1 6 24462792 missense variant G/C snv 0.12 0.10 0.700 1.000 1 2018 2018
dbSNP: rs174601
rs174601
12 0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17689159
rs17689159
1 16 79708493 intron variant T/C snv 0.29 0.700 1.000 1 2018 2018