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: rs144120533
rs144120533
1 17 78138386 missense variant C/T snv 2.0E-03 1.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs2748424
rs2748424
4 17 78128784 intron variant C/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs2748425
rs2748425
3 17 78128765 5 prime UTR variant G/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs453922
rs453922
1 17 78130526 intron variant T/A;C snv 0.700 1.000 1 2016 2016