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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 2005 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2012 2017
dbSNP: rs10789340
rs10789340
LOC105378797
2 0.925 0.120 1 72474590 intron variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1200746244
rs1200746244
MTHFR
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs17641524
rs17641524
DENND1B
2 0.925 0.120 1 197735587 splice region variant C/G;T snv 4.0E-06; 0.17 0.700 1.000 2 2018 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2016
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.020 0.500 2 2001 2005
dbSNP: rs3738401
rs3738401
DISC1 ; TSNAX-DISC1
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.020 1.000 2 2014 2014
dbSNP: rs4650608
rs4650608 		7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.800 1.000 2 2013 2013
dbSNP: rs766288
rs766288
TSNAX ; TSNAX-DISC1
7 0.790 0.080 1 231557942 intron variant G/T snv 0.40 0.020 1.000 2 2010 2014
dbSNP: rs821616
rs821616
DISC1 ; TSNAX-DISC1
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.020 1.000 2 2006 2014
dbSNP: rs1002656
rs1002656 		1 1.000 0.040 1 36727140 intergenic variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs10127497
rs10127497
SGIP1
1 1.000 0.040 1 66584461 intron variant A/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10494251
rs10494251
BCL9
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10494994
rs10494994
KCNK2
1 1.000 0.040 1 215188864 intron variant G/A snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2016 2016
dbSNP: rs10789214
rs10789214
SGIP1
1 1.000 0.040 1 66681134 intron variant C/T snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10890020
rs10890020
LOC105378800
1 1.000 0.040 1 73203153 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10890045
rs10890045 		1 1.000 0.040 1 73531941 intergenic variant T/C snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs10913112
rs10913112
COP1
1 1.000 0.040 1 175944692 downstream gene variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10914456
rs10914456
HCRTR1
2 1.000 0.040 1 31622570 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10922744
rs10922744
ZNF326
1 1.000 0.040 1 90027467 synonymous variant G/A snv 0.61; 1.2E-05 0.57 0.010 1.000 1 2012 2012
dbSNP: rs111365677
rs111365677 		3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11209175
rs11209175
GNG12-AS1
2 1.000 0.040 1 67909145 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs11209948
rs11209948
LOC105378797
2 1.000 0.040 1 72346221 intron variant G/C;T snv 0.700 1.000 1 2016 2016