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: rs72966077
rs72966077
1 1.000 0.040 2 218894507 intron variant C/T snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs747650
rs747650
1 1.000 0.040 11 47154454 non coding transcript exon variant C/T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs7531806
rs7531806
1 1.000 0.040 1 169681903 intron variant G/A snv 0.61 0.700 1.000 1 2014 2014
dbSNP: rs75430906
rs75430906
1 1.000 0.040 3 20676437 intron variant G/A snv 1.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs7809981
rs7809981
1 1.000 0.040 7 40834777 intron variant G/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs788790
rs788790
1 1.000 0.040 1 202320478 downstream gene variant C/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs61744384
rs61744384
1 1.000 0.040 11 65619907 synonymous variant T/A;G snv 0.45; 4.1E-06 0.700 1.000 1 2018 2018
dbSNP: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2014 2018
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2010 2010