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: rs724159951
rs724159951
DYRK1A
6 21 37493101 missense variant T/C snv 0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
6 21 37490451 frameshift variant -/G delins 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
6 21 37496249 frameshift variant -/G delins 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0