Source: ALL
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: rs1060499805
rs1060499805
OTOF
1 1.000 0.120 2 26468468 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs111033349
rs111033349
OTOF
1 1.000 0.120 2 26461854 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs111033373
rs111033373
OTOF
1 1.000 0.120 2 26462182 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1207102900
rs1207102900
OTOF
2 1.000 0.120 2 26460027 stop lost A/G snv 0.700 0
dbSNP: rs121908598
rs121908598
OTOF
1 1.000 0.120 2 26458074 missense variant G/C snv 0.700 0
dbSNP: rs1274464930
rs1274464930
OTOF
1 1.000 0.120 2 26467098 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1403112959
rs1403112959
OTOF
2 1.000 0.120 2 26482563 stop gained A/T snv 0.700 0
dbSNP: rs143939430
rs143939430
OTOF
1 1.000 0.120 2 26465020 stop gained G/A;T snv 6.0E-06 0.700 0
dbSNP: rs1443739332
rs1443739332
OTOF
1 1.000 0.120 2 26482418 frameshift variant TTAGAAATCTTGCGCA/- delins 7.0E-06 0.700 0
dbSNP: rs147321712
rs147321712
OTOF
2 1.000 0.120 2 26466731 stop gained G/A;T snv 2.3E-04 0.700 0
dbSNP: rs1553353527
rs1553353527
OTOF
2 1.000 0.120 2 26479601 frameshift variant CCGAGGCCGCTGGGGCCGGG/- delins 0.700 0
dbSNP: rs1553356452
rs1553356452
OTOF
2 1.000 0.120 2 26494937 splice region variant C/T snv 0.700 0
dbSNP: rs1558464965
rs1558464965
OTOF
2 1.000 0.120 2 26460746 missense variant C/A snv 0.700 0
dbSNP: rs1558472243
rs1558472243
OTOF
1 1.000 0.120 2 26466723 frameshift variant TA/- delins 0.700 0
dbSNP: rs1558482554
rs1558482554
OTOF
2 1.000 0.120 2 26475916 stop gained C/A snv 0.700 0
dbSNP: rs1558485249
rs1558485249
OTOF
1 1.000 0.120 2 26477252 frameshift variant G/- delins 0.700 0
dbSNP: rs1558488902
rs1558488902
OTOF
2 1.000 0.120 2 26480211 missense variant A/T snv 0.700 0
dbSNP: rs1558489384
rs1558489384
OTOF
2 1.000 0.120 2 26480788 stop gained C/A snv 0.700 0
dbSNP: rs199848801
rs199848801
OTOF
1 1.000 0.120 2 26473999 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs201326023
rs201326023
OTOF
4 0.882 0.120 2 26458218 missense variant C/T snv 4.3E-05 1.4E-05 0.700 0
dbSNP: rs370609551
rs370609551
OTOF
1 1.000 0.120 2 26474532 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs397515435
rs397515435
OTOF
2 1.000 0.120 2 26480968 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs397515579
rs397515579
OTOF
1 1.000 0.120 2 26484575 frameshift variant CC/G delins 0.700 0
dbSNP: rs397515580
rs397515580
OTOF
1 1.000 0.120 2 26484498 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs397515581
rs397515581
OTOF
1 1.000 0.120 2 26483618 frameshift variant G/-;GG delins 0.700 0