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: rs201249971
rs201249971
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.700 1.000 7 2009 2015
dbSNP: rs121917820
rs121917820
3 0.925 0.040 6 31117017 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs56234898
rs56234898
1 1.000 0.040 11 18744101 missense variant A/G snv 7.8E-03 9.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs587776925
rs587776925
2 0.925 0.040 1 203863714 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs885479
rs885479
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2015 2015