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: rs121917708
rs121917708
1 1.000 0.160 2 120978500 missense variant C/G;T snv 4.0E-06 0.800 1.000 3 2003 2010
dbSNP: rs1558937172
rs1558937172
2 0.925 0.160 2 120984744 splice donor variant G/A snv 0.700 1.000 2 2003 2010
dbSNP: rs1057518657
rs1057518657
1 1.000 0.160 2 120990568 missense variant A/G;T snv 0.700 0
dbSNP: rs1057518689
rs1057518689
1 1.000 0.160 2 120989172 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518696
rs1057518696
1 1.000 0.160 2 120970438 frameshift variant G/- del 0.700 0
dbSNP: rs121917707
rs121917707
1 1.000 0.160 2 120975064 stop gained G/A snv 0.700 0
dbSNP: rs1272759660
rs1272759660
1 1.000 0.160 2 120988708 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1388607733
rs1388607733
2 0.925 0.160 2 120927402 frameshift variant -/T delins 0.700 0
dbSNP: rs1553471273
rs1553471273
3 0.925 0.160 2 120951309 frameshift variant G/- delins 0.700 0
dbSNP: rs387907277
rs387907277
1 1.000 0.160 2 120984672 missense variant G/A snv 5.6E-05 4.2E-05 0.700 0
dbSNP: rs398122882
rs398122882
1 1.000 0.160 2 120970408 frameshift variant CC/- delins 0.700 0
dbSNP: rs767802807
rs767802807
1 1.000 0.160 2 120990575 missense variant C/T snv 4.4E-05 2.1E-05 0.700 0