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: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.020 1.000 2 2011 2016
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2013
dbSNP: rs10431386
rs10431386
MLEC
2 1.000 0.040 12 120691123 intron variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs10774909
rs10774909
NOS1
1 1.000 0.040 12 117236324 intron variant C/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1411040
rs1411040
COL4A1
1 1.000 0.040 13 110291574 intron variant C/T snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs191727850
rs191727850
MIR124-2 ; MIR124-2HG
1 1.000 0.040 8 64379319 intron variant A/G snv 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs1961495
rs1961495
COL4A1
1 1.000 0.040 13 110229026 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2735835
rs2735835
CCL18
1 1.000 0.040 17 36065936 intron variant G/A snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs2853749
rs2853749
SPP1
3 0.882 0.160 4 87976662 intron variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3024490
rs3024490
IL10 ; IL19
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs59007384
rs59007384
TOMM40
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6517135
rs6517135
OLIG2
2 0.925 0.080 21 33025263 intron variant T/C snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs6568431
rs6568431
ATG5
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2017 2017
dbSNP: rs7964786
rs7964786
MLEC
1 1.000 0.040 12 120694297 intron variant C/T snv 7.3E-05; 0.43 0.49 0.010 1.000 1 2018 2018
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs9653711
rs9653711
OLIG2 ; LOC107985505
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2005 2005
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs1057519583
rs1057519583
STN1
3 0.882 0.160 10 103900115 missense variant C/G snv 0.010 1.000 1 2019 2019