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: rs1456103222
rs1456103222
1 1.000 0.120 17 45983399 missense variant G/A snv 4.2E-06 1.4E-05 0.020 1.000 2 2016 2016
dbSNP: rs1378923121
rs1378923121
2 0.925 0.120 17 45983474 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2009 2009