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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs886039773
rs886039773
SON
3 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs864309487
rs864309487
GMNN
20 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs782736894
rs782736894
BPTF
16 0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1421405659
rs1421405659
MYBPC1
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
dbSNP: rs141970897
rs141970897
CRAT
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
dbSNP: rs1057521737
rs1057521737
EP300
11 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs727503109
rs727503109
KRAS
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
dbSNP: rs80338848
rs80338848
SLC26A4
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs111033212
rs111033212
SLC26A4
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.700 0
dbSNP: rs587777449
rs587777449
IFIH1
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs1114167303
rs1114167303
SON
3 0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555740650
rs1555740650
PRR12
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0