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: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1555043939
rs1555043939
9 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
dbSNP: rs1567558314
rs1567558314
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs1569172839
rs1569172839
2 0.925 0.080 22 25903716 frameshift variant -/G delins 0.700 0
dbSNP: rs557849165
rs557849165
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0