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: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs776095655
rs776095655
SLC2A1
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs797044519
rs797044519
DYRK1A
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
9 0.925 21 37496119 frameshift variant AGAT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
9 0.925 21 37486513 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
9 0.925 21 37490244 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
7 0.925 21 37490393 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518083
rs1057518083
DYNC1H1
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
6 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 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: rs886041287
rs886041287
TTN ; TTN-AS1
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0