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: rs1057518984
rs1057518984
1 1.000 0.280 6 157203997 splice donor variant G/A snv 0.700 0
dbSNP: rs1057519009
rs1057519009
1 1.000 0.280 6 157181118 frameshift variant -/AA delins 0.700 0
dbSNP: rs1562354784
rs1562354784
2 0.925 0.280 6 157207612 frameshift variant A/- delins 0.700 0
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs387906812
rs387906812
3 0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs770899419
rs770899419
1 1.000 0.280 16 2498384 missense variant A/G snv 4.3E-06 0.010 1.000 1 2014 2014