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: rs1057518898
rs1057518898
DYNC2H1
3 11 103256241 splice donor variant G/A;C snv 4.4E-06 0.700 0
dbSNP: rs377510027
rs377510027
DARS1
6 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
dbSNP: rs550423482
rs550423482
PNPO
6 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
6 0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs1564062144
rs1564062144
HNRNPK
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
8 0.925 21 37480768 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
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: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A 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: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs1555493029
rs1555493029
COG7
10 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555497604
rs1555497604
COG7
10 0.851 0.240 16 23452993 start lost A/G snv 0.700 0
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0