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: rs2302593
rs2302593
2 19 45693376 intron variant C/A;G snv 1.0E-04; 0.48 0.700 1.000 1 2012 2012
dbSNP: rs234148
rs234148
1 14 97688682 upstream gene variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs35742417
rs35742417
2 1.000 0.080 6 7247111 missense variant C/A;G;T snv 0.13; 3.0E-04; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs3816725
rs3816725
2 11 47284118 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965
4 0.925 0.120 2 27313513 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs4682484
rs4682484
1 3 113304023 missense variant T/A;C snv 0.98 0.700 1.000 1 2009 2009
dbSNP: rs540671238
rs540671238
1 7 18732931 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs651007
rs651007
22 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs7756992
rs7756992
12 0.827 0.240 6 20679478 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7821492
rs7821492
1 8 76910847 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs79687284
rs79687284
1 1 213977478 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7981781
rs7981781
1 13 27925825 3 prime UTR variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs8004664
rs8004664
3 0.925 0.080 14 89568628 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs853787
rs853787
2 2 168945742 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9368222
rs9368222
8 1.000 0.080 6 20686765 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs118084662
rs118084662
1 17 21169976 intron variant A/G snv 3.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs370189685
rs370189685
1 21 42856322 intron variant G/C snv 9.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs533883198
rs533883198
1 10 3286126 intergenic variant G/A snv 2.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs2232326
rs2232326
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs143399767
rs143399767
1 9 93420421 downstream gene variant A/C snv 6.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs7273292
rs7273292
2 20 21492724 upstream gene variant T/C snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs10305492
rs10305492
2 1.000 0.080 6 39079018 missense variant G/A snv 1.0E-02 1.1E-02 0.700 1.000 2 2015 2015
dbSNP: rs4836906
rs4836906
1 9 122665528 downstream gene variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs17712208
rs17712208
2 1 213977102 intron variant T/A snv 2.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs16993414
rs16993414
1 20 7327891 intergenic variant T/C snv 2.4E-02 0.700 1.000 1 2009 2009