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: rs2241694
rs2241694
CAMK2A
1 1.000 0.040 5 150223045 missense variant A/G snv 0.92 0.94 0.010 1.000 1 2018 2018
dbSNP: rs526126
rs526126
FADS2
3 1.000 0.040 11 61857413 intron variant G/C;T snv 0.81; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2056202
rs2056202
SLC25A12
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2008 2017
dbSNP: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
dbSNP: rs25925
rs25925
CAMK4
2 0.925 0.040 5 111484055 synonymous variant G/C snv 0.75 0.83 0.010 1.000 1 2014 2014
dbSNP: rs1390938
rs1390938
SLC18A1
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs1060826
rs1060826
NOS2
4 0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67 0.010 1.000 1 2009 2009
dbSNP: rs6323
rs6323
MAOA
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs465899
rs465899
APC
3 0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60 0.010 1.000 1 2007 2007
dbSNP: rs20556
rs20556
LAMB1
1 1.000 0.040 7 107953544 missense variant T/C snv 0.65 0.66 0.010 1.000 1 2015 2015
dbSNP: rs1800692
rs1800692
TNFRSF1A
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.010 1.000 1 2013 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2158836
rs2158836
LAMB1
1 1.000 0.040 7 107940394 non coding transcript exon variant A/G snv 0.63 0.64 0.010 1.000 1 2015 2015
dbSNP: rs251684
rs251684
PLA2G4C
2 1.000 0.040 19 48098197 synonymous variant T/C snv 0.61 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2018 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs3735653
rs3735653
EN2
2 0.925 0.040 7 155458738 missense variant C/G;T snv 0.54 0.020 1.000 2 2004 2010
dbSNP: rs1049346
rs1049346
GLO1
3 0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54 0.010 1.000 1 2015 2015
dbSNP: rs35678
rs35678
ATP2B2
2 0.925 0.040 3 10338239 missense variant C/T snv 0.49 0.47 0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2009 2013
dbSNP: rs241509
rs241509
ATP2B2
1 1.000 0.040 3 10345375 intron variant C/A;T snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs561077
rs561077
GPR50
4 0.882 0.080 X 151181177 missense variant A/G snv 0.43 0.45 0.010 1.000 1 2010 2010
dbSNP: rs9616915
rs9616915
SHANK3
2 1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1799836
rs1799836
MAOB
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2019 2019