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: rs121909190
rs121909190
1 1.000 0.080 7 19116766 missense variant C/T snv 0.800 1.000 1 2007 2007
dbSNP: rs121909191
rs121909191
1 1.000 0.080 7 19116759 missense variant G/A;C snv 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs1554441995
rs1554441995
2 0.925 0.080 7 19116927 missense variant C/G snv 0.700 1.000 10 1998 2015
dbSNP: rs1554441991
rs1554441991
2 0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins 0.700 1.000 7 1997 2010
dbSNP: rs121909188
rs121909188
2 0.925 0.080 7 19116946 stop gained C/A snv 0.700 1.000 5 1997 2013
dbSNP: rs1554442019
rs1554442019
2 0.925 0.080 7 19116976 missense variant G/C snv 0.700 1.000 4 1998 2011
dbSNP: rs1554442082
rs1554442082
2 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013
dbSNP: rs587777007
rs587777007
ERF
2 0.925 0.080 19 42249220 frameshift variant CT/- del 0.700 1.000 2 2013 2017
dbSNP: rs1554441993
rs1554441993
2 0.925 0.080 7 19116913 frameshift variant -/G delins 0.700 1.000 1 2013 2013
dbSNP: rs1555750816
rs1555750816
ERF
1 1.000 0.080 19 42249545 frameshift variant CA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1085307555
rs1085307555
2 0.925 0.080 7 19116993 missense variant C/G;T snv 0.700 0
dbSNP: rs1555750741
rs1555750741
ERF
1 1.000 0.080 19 42249379 frameshift variant G/- delins 0.700 0
dbSNP: rs1555750795
rs1555750795
ERF
1 1.000 0.080 19 42249493 stop gained G/A snv 0.700 0
dbSNP: rs1563159980
rs1563159980
2 0.925 0.080 7 19116903 stop gained -/AGGGCAGCGTGGGGATGATCT delins 0.700 0
dbSNP: rs1563160116
rs1563160116
2 0.925 0.080 7 19117021 stop gained G/A snv 0.700 0
dbSNP: rs1563160337
rs1563160337
2 0.925 0.080 7 19117211 frameshift variant CGTCCCCCGCGCTTGCCGCTCG/- delins 0.700 0
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
dbSNP: rs10509291
rs10509291
6 0.827 0.280 10 67875446 downstream gene variant T/A snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1467568
rs1467568
8 0.776 0.320 10 67915401 intron variant A/G snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs2273773
rs2273773
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs33957861
rs33957861
3 0.882 0.160 10 67887218 intron variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3740051
rs3740051
2 0.925 0.200 10 67884201 upstream gene variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3818292
rs3818292
5 0.827 0.280 10 67907144 intron variant A/G snv 7.1E-02 0.010 1.000 1 2019 2019