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: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 < 0.001 1 2017 2017
dbSNP: rs2433322
rs2433322
3 0.925 0.040 4 94458590 intron variant A/G snv 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1280914556
rs1280914556
2 1 32014269 missense variant A/G snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs756915170
rs756915170
2 19 49909654 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs961750842
rs961750842
1 1 32014200 missense variant C/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2016520
rs2016520
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs12524487
rs12524487
3 0.925 0.160 6 31386461 upstream gene variant C/T snv 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs9366782
rs9366782
2 1.000 0.080 6 31360768 upstream gene variant A/T snv 9.4E-02 0.010 1.000 1 2018 2018