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: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs587784177
rs587784177
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs146167165
rs146167165
1 6 162633261 intron variant C/T snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs113940640
rs113940640
1 9 37228393 intron variant T/A;C snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs192386132
rs192386132
1 10 122178340 intron variant G/A snv 8.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs174565
rs174565
1 11 61824164 intron variant C/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs188635171
rs188635171
1 12 7225691 intergenic variant G/A;C snv 8.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs12325540
rs12325540
1 16 73346464 intron variant C/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs72848293
rs72848293
1 17 74318710 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019