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: rs1568472771
rs1568472771
ERF
1 1.000 0.080 19 42250365 stop gained G/A snv 0.700 0
dbSNP: rs1568475667
rs1568475667
ERF
1 1.000 0.080 19 42254967 splice donor variant CCCCCACCTGTGTCCGCCGGGGTCTTCATGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCTCCCG/- delins 0.700 0
dbSNP: rs587777006
rs587777006
ERF
3 0.882 0.080 19 42249565 stop gained G/A;C snv 4.0E-06 0.700 0