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: rs886041459
rs886041459
TUBB3
3 0.925 0.080 16 89935140 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs886039802
rs886039802
BBS4
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs80356618
rs80356618
KCNJ11
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006
dbSNP: rs80356611
rs80356611
KCNJ11
10 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs786203986
rs786203986
NALCN
3 0.925 13 101176371 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs751569508
rs751569508
NCOR1
5 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs587777585
rs587777585
VARS2
6 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs398122855
rs398122855
PRPS1
5 0.882 0.240 X 107642384 missense variant G/C snv 0.010 1.000 1 2012 2012
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: rs369867819
rs369867819
LRRC32 ; LOC107984360
5 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs368085185
rs368085185
NBAS
2 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs367619008
rs367619008
DPYD
3 0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs34832477
rs34832477
TUBGCP2
3 0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2006 2006