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: rs878853357
rs878853357
1 3 101228876 stop gained C/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs878853358
rs878853358
1 3 101243918 frameshift variant AC/- delins 0.700 0
dbSNP: rs758291149
rs758291149
2 3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs768660614
rs768660614
1 3 101320304 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1556297584
rs1556297584
1 X 107628675 missense variant C/T snv 0.700 0
dbSNP: rs1556300610
rs1556300610
1 X 107645232 missense variant C/T snv 0.700 0
dbSNP: rs1556300621
rs1556300621
2 X 107645286 missense variant C/T snv 0.700 0
dbSNP: rs867288458
rs867288458
2 X 107645287 missense variant G/A;C snv 0.700 0
dbSNP: rs201422368
rs201422368
2 1.000 0.040 1 111120539 stop gained C/T snv 3.6E-05 3.5E-05 0.700 0
dbSNP: rs786205664
rs786205664
2 1.000 0.040 1 111120671 missense variant T/A snv 0.700 0
dbSNP: rs786205663
rs786205663
1 1 111124856 inframe deletion CGAACATAA/- delins 0.700 0
dbSNP: rs746559651
rs746559651
2 1.000 0.040 1 111126286 frameshift variant C/- delins 1.2E-05 7.1E-06 0.700 0
dbSNP: rs786205665
rs786205665
2 1.000 0.040 1 111131424 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs786205662
rs786205662
2 1.000 0.040 1 111131476 missense variant A/G snv 0.700 0
dbSNP: rs786205661
rs786205661
2 1.000 0.040 1 111131489 inframe deletion CAG/- delins 0.700 0
dbSNP: rs878853355
rs878853355
1 2 111968225 frameshift variant CTC/TT delins 0.700 0
dbSNP: rs1052954321
rs1052954321
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs906525288
rs906525288
1 11 119339494 missense variant G/A;C snv 0.700 0
dbSNP: rs1555036138
rs1555036138
1 11 119339507 missense variant G/A snv 0.700 0
dbSNP: rs1555037395
rs1555037395
1 11 119344335 stop gained G/A snv 0.700 0
dbSNP: rs767295178
rs767295178
1 3 121770503 frameshift variant -/TGCCACA delins 2.4E-05 7.0E-06 0.700 0
dbSNP: rs121918244
rs121918244
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 1.000 1 2005 2005
dbSNP: rs1553711564
rs1553711564
1 3 121788283 splice donor variant C/T snv 0.700 0
dbSNP: rs1189889920
rs1189889920
1 3 121790208 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs878853352
rs878853352
1 4 121828692 stop gained AG/TCT delins 0.700 0