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: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs1314710813
rs1314710813
MIP
1 1.000 0.040 12 56454277 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014