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: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs55984493
rs55984493 		5 0.851 0.040 13 99118074 intergenic variant A/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs5865
rs5865
TMEM131
5 0.851 0.040 2 97756543 3 prime UTR variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs765797019
rs765797019
PIK3CD
1 1 9720754 missense variant C/T snv 3.3E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs4744411
rs4744411
AOPEP ; LOC101928119
3 0.925 0.040 9 94926763 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4761587
rs4761587
PLXNC1
4 0.882 12 94158023 intron variant A/G snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs10806425
rs10806425
BACH2
6 0.851 0.280 6 90216893 intron variant C/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs7538427
rs7538427
GTF2B
2 1.000 0.080 1 88873739 intron variant C/T snv 0.93 0.010 < 0.001 1 2012 2012
dbSNP: rs305217
rs305217
PKN2
2 1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs11117433
rs11117433 		6 0.827 0.160 16 85985910 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs761234173
rs761234173
CDH13
2 1.000 0.040 16 83783345 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs11622435
rs11622435
LOC101928462
7 0.827 0.120 14 81151652 intron variant G/A snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2013 2013
dbSNP: rs1250552
rs1250552
ZMIZ1
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1250563
rs1250563
ZMIZ1
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs3827440
rs3827440
GPR174 ; LOC107985690
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2013 2013