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: rs121912878
rs121912878
1 1.000 0.080 12 47978389 missense variant C/T snv 0.800 1.000 8 1989 2007
dbSNP: rs121912879
rs121912879
2 0.925 0.080 12 47980017 missense variant C/G snv 0.800 1.000 8 1989 2007
dbSNP: rs121912888
rs121912888
1 1.000 0.080 12 47985946 missense variant C/T snv 0.800 1.000 8 1989 2007
dbSNP: rs1555167156
rs1555167156
1 1.000 0.080 12 47985956 missense variant C/T snv 0.700 1.000 8 1989 2007
dbSNP: rs121912874
rs121912874
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs121912899
rs121912899
1 1.000 0.080 12 47985771 missense variant C/A snv 0.700 0
dbSNP: rs1555165335
rs1555165335
1 1.000 0.080 12 47978042 inframe deletion CACGGGGCCAGGAGGACC/- delins 0.700 0
dbSNP: rs1555166729
rs1555166729
1 1.000 0.080 12 47983699 missense variant C/T snv 0.700 0
dbSNP: rs1565681966
rs1565681966
1 1.000 0.080 12 47985726 splice donor variant A/C snv 0.700 0
dbSNP: rs794727261
rs794727261
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0
dbSNP: rs868417981
rs868417981
1 1.000 0.080 12 47986343 missense variant C/A;T snv 0.700 0
dbSNP: rs1289257741
rs1289257741
GAA
2 0.925 0.080 17 80118690 frameshift variant AGGGA/- del 4.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1377808450
rs1377808450
2 0.925 0.080 12 47980621 missense variant T/C snv 0.010 1.000 1 1992 1992