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: rs1862513
rs1862513
11 0.763 0.360 19 7668907 upstream gene variant C/G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs3745367
rs3745367
8 0.827 0.200 19 7669625 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs3745368
rs3745368
1 1.000 0.040 19 7670411 3 prime UTR variant G/A snv 6.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs750359414
rs750359414
5 0.851 0.240 19 7669884 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019