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: rs950880
rs950880
IL18R1 ; IL1RL1
3 1.000 0.040 2 102316102 intron variant C/A snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs566125
rs566125
MMP3
3 1.000 0.040 11 102839740 intron variant C/T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs7860288
rs7860288
LOC105376214
1 9 108090106 intergenic variant A/G snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs7022762
rs7022762
LOC105376214
1 9 108091224 intergenic variant T/C snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs7046999
rs7046999
LOC105376214
1 9 108103777 regulatory region variant A/C snv 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10979314
rs10979314
LOC105376214
1 9 108310149 intergenic variant G/A snv 7.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1975514
rs1975514
COL4A1
1 13 110176544 intron variant T/C;G snv 0.36; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs138294113
rs138294113 		1 19 11081053 downstream gene variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.800 1.000 1 2014 2014
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.710 1.000 2 2019 2020
dbSNP: rs499832
rs499832
LOC105378490
1 10 113310381 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12520838
rs12520838
COMMD10
1 5 116161170 intron variant A/C;G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1638665
rs1638665 		1 10 117414434 regulatory region variant T/C snv 2.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2005 2016
dbSNP: rs6668352
rs6668352 		2 1 11854772 downstream gene variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs13290547
rs13290547
DAB2IP
1 9 121725216 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012