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: rs12917707
rs12917707
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs13329952
rs13329952
3 1.000 0.080 16 20355185 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs188709583
rs188709583
3 1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 1 2018 2018