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: rs1553941890
rs1553941890
4 0.851 0.080 4 95129916 missense variant C/A snv 0.700 0
dbSNP: rs863223287
rs863223287
1 1.000 4 95123819 frameshift variant GGACCTAT/- delins 0.700 0
dbSNP: rs863225041
rs863225041
2 0.925 0.080 4 95114733 missense variant T/C snv 0.800 0
dbSNP: rs863225042
rs863225042
1 1.000 4 95129933 stop gained G/A snv 0.700 0
dbSNP: rs745854387
rs745854387
1 1.000 4 95104515 missense variant C/A;T snv 4.0E-06 0.800 0