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: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2019 2019
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: rs806381
rs806381
2 0.925 0.080 6 88156182 intron variant A/G snv 0.32 0.010 < 0.001 1 2012 2012
dbSNP: rs8179206
rs8179206
1 1.000 2 27497575 missense variant A/G snv 1.9E-03 7.2E-04 0.010 1.000 1 2011 2011