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: rs1057517786
rs1057517786
3 0.925 0.400 3 167704889 stop gained G/A snv 0.700 1.000 5 2005 2016
dbSNP: rs1553760900
rs1553760900
1 1.000 0.280 3 167695669 stop gained G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1303470125
rs1303470125
1 1.000 0.280 3 167695690 stop gained G/A;C snv 0.700 0
dbSNP: rs1553759042
rs1553759042
1 1.000 0.280 3 167687227 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1553759059
rs1553759059
1 1.000 0.280 3 167687281 stop gained G/C snv 0.700 0
dbSNP: rs1553759139
rs1553759139
5 0.925 0.400 3 167687610 splice region variant C/T snv 0.700 0
dbSNP: rs1553761266
rs1553761266
1 1.000 0.280 3 167697114 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1559941951
rs1559941951
1 1.000 0.280 3 167684371 frameshift variant -/A delins 0.700 0
dbSNP: rs1559952317
rs1559952317
1 1.000 0.280 3 167695657 frameshift variant -/T delins 0.700 0