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: rs11824092
rs11824092
ARNTL
7 0.925 0.080 11 13324747 intron variant T/C snv 0.62 0.020 1.000 2 2014 2016
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.020 1.000 2 2014 2016
dbSNP: rs10766075
rs10766075
ARNTL
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs10864315
rs10864315
PER3
3 1 7790021 intron variant C/T snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11022778
rs11022778
ARNTL
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11600996
rs11600996
ARNTL
4 1.000 0.040 11 13374619 intron variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1481892
rs1481892
ARNTL
3 11 13280374 intron variant G/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1982350
rs1982350
ARNTL
4 11 13328584 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs3789327
rs3789327
ARNTL
6 0.925 0.080 11 13363769 intron variant A/G snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs3805148
rs3805148
CLOCK ; TMEM165
3 4 55440643 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs4719714
rs4719714
STEAP1B
5 1.000 0.080 7 22721094 intron variant A/T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs738499
rs738499
TEF ; LOC105373042
9 0.851 0.120 22 41381096 intron variant G/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs9563121
rs9563121
KL
4 0.925 0.080 13 33050369 intron variant C/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs156243
rs156243 		6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1057521223
rs1057521223
SCN2A
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs1555358382
rs1555358382
GCH1
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs773685207
rs773685207
MED13
6 0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 0.700 0