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: rs191284403
rs191284403
SLITRK1
1 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs193302861
rs193302861
SLITRK1
2 0.925 0.120 13 83880244 frameshift variant G/- delins 0.700 0
dbSNP: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
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: 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: 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: 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: rs2504235
rs2504235
FLT3
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4047771
rs4047771
LOC285500
1 1.000 0.120 4 177549744 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4271390
rs4271390
NECTIN1
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs4988462
rs4988462
POU1F1
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs1013940
rs1013940
SLC5A7
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004
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: 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: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs1800044
rs1800044
HTR1A
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1996 1996
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1805404
rs1805404
PARP1
3 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 0.010 1.000 1 2013 2013
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