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: rs149388997
rs149388997
2 22 32498965 downstream gene variant GTTTT/-;GTTTTGTTTT delins 0.41 0.700 1.000 1 2016 2016
dbSNP: rs2142718
rs2142718
2 22 32477140 intron variant G/C snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs3788449
rs3788449
2 22 32487116 intron variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs5749446
rs5749446
3 22 32484598 intron variant T/A;C snv 0.700 1.000 1 2012 2012