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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs146535482
rs146535482
2 1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs200798148
rs200798148
2 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs3738880
rs3738880
4 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
dbSNP: rs61730970
rs61730970
2 1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs774679542
rs774679542
2 1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018