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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 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 < 0.001 1 2004 2004
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs1888747
rs1888747
FRMD3
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs1926723
rs1926723
AGT
2 1.000 0.080 1 230704350 intron variant T/A;C;G snv 1.2E-05; 0.11; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs204732
rs204732
SCAF4
1 21 31720530 intron variant G/A snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2053044
rs2053044
ADRB2
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 1.000 1 2000 2000
dbSNP: rs2228226
rs2228226
GLI1 ; ARHGAP9
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 1.000 1 2010 2010
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs2237897
rs2237897
KCNQ1
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2281999
rs2281999
UNC13B
3 0.925 0.160 9 35381507 intron variant C/T snv 0.35 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2607420
rs2607420
ITPKC
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs315952
rs315952
IL1RN
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs3729548
rs3729548
SLC2A1
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs37369
rs37369
AGXT2
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.010 1.000 1 2017 2017
dbSNP: rs3752462
rs3752462
MYH9
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2018 2018
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2015 2015
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014