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: rs10497394
rs10497394
2 0.925 0.040 2 173432931 upstream gene variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1800028
rs1800028
3 0.925 0.040 19 48703560 stop gained C/G;T snv 5.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2014 2014
dbSNP: rs5030717
rs5030717
9 0.807 0.240 9 117711556 intron variant A/G snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs766490137
rs766490137
2 0.925 0.040 3 52458801 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80356779
rs80356779
10 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2019 2019