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: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.030 1.000 3 2009 2014
dbSNP: rs2708146
rs2708146
LINC01122
1 1.000 0.120 2 58728818 intron variant A/G snv 0.47 0.710 1.000 2 2019 2019
dbSNP: rs7868992
rs7868992
COL27A1
1 1.000 0.120 9 114228791 intron variant G/A snv 0.63 0.810 1.000 2 2013 2015
dbSNP: rs9296249
rs9296249
BTBD9
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.020 1.000 2 2012 2014
dbSNP: rs10846381
rs10846381
MGST1 ; LMO3
1 1.000 0.120 12 16599165 non coding transcript exon variant A/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11149058
rs11149058
LOC105370269
2 0.925 0.120 13 76978136 downstream gene variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11264126
rs11264126
DLGAP3
1 1.000 0.120 1 34876494 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs11603305
rs11603305 		1 1.000 0.120 11 10976402 regulatory region variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs117648881
rs117648881
CSMD3
1 1.000 0.120 8 112569669 intron variant G/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs12141243
rs12141243
DLGAP3
1 1.000 0.120 1 34881321 intron variant T/C snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs12459560
rs12459560
FPR3 ; ZNF577
1 1.000 0.120 19 51815127 intron variant G/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs13407215
rs13407215 		1 1.000 0.120 2 160688380 intergenic variant C/T snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs150975336
rs150975336
MUC16
1 1.000 0.120 19 8995481 intergenic variant C/G snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1805476
rs1805476
GRIN2B
4 0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1805502
rs1805502
GRIN2B
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1906252
rs1906252 		3 0.925 0.120 6 98102413 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs191044310
rs191044310 		1 1.000 0.120 10 23416522 intergenic variant T/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1922786
rs1922786
LINC01122
1 1.000 0.120 2 58636438 intron variant A/G snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs2433718
rs2433718
SLC5A7
1 1.000 0.120 2 107986975 intron variant A/G snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs2504235
rs2504235
FLT3
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs25532
rs25532
SLC6A4 ; LOC105371720
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs3793798
rs3793798
CHAT
1 1.000 0.120 10 49663420 intron variant T/A;C snv 0.010 1.000 1 2018 2018