Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33