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: rs1256328
rs1256328
2 0.925 0.120 1 21570274 intron variant C/T snv 0.16 0.14 0.720 1.000 3 2015 2019
dbSNP: rs1168879812
rs1168879812
2 0.925 0.120 1 21577539 missense variant G/A snv 0.010 1.000 1 2015 2015