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: rs2425049
rs2425049
2 20 35286917 missense variant C/T snv 0.25 0.35 0.700 1.000 1 2010 2010
dbSNP: rs2425050
rs2425050
2 20 35291675 intron variant A/G snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs6058224
rs6058224
2 20 35293971 upstream gene variant G/A snv 0.29 0.700 1.000 1 2010 2010
dbSNP: rs8120559
rs8120559
2 20 35292743 upstream gene variant G/A snv 0.20 0.700 1.000 1 2010 2010