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: rs1550532
rs1550532
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs1570669
rs1570669
4 0.925 0.080 20 54157888 intron variant A/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs16832956
rs16832956
2 3 122298661 regulatory region variant C/G;T snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs16833078
rs16833078
2 3 122380747 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833080
rs16833080
2 3 122382060 intron variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833168
rs16833168
2 3 122535800 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs17200894
rs17200894
2 3 122411294 3 prime UTR variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs17201246
rs17201246
2 3 122426623 3 prime UTR variant C/A snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.800 1.000 2 2010 2017
dbSNP: rs17265703
rs17265703
4 3 122329797 intron variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs17266816
rs17266816
2 3 122410027 3 prime UTR variant G/A snv 7.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs17267388
rs17267388
2 3 122548699 intron variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs17711722
rs17711722
2 7 65806210 downstream gene variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.800 1.000 4 2010 2018
dbSNP: rs2001548
rs2001548
2 3 122313942 upstream gene variant G/A snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs2270859
rs2270859
3 1.000 0.040 3 122536861 non coding transcript exon variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs3109133
rs3109133
1 2 132545965 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs34339006
rs34339006
2 1.000 0.040 2 233362876 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs3749203
rs3749203
2 3 122257647 intron variant C/T snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs3749208
rs3749208
2 3 122261437 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs3750996
rs3750996
2 1.000 0.040 11 4091970 3 prime UTR variant A/G snv 7.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs3792289
rs3792289
2 3 122274753 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3804590
rs3804590
2 3 122259226 intron variant G/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs4306808
rs4306808
2 3 122409619 intron variant G/C snv 0.84 0.700 1.000 1 2010 2010
dbSNP: rs4491840
rs4491840
2 3 122361900 intron variant G/A snv 0.17 0.700 1.000 1 2010 2010