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: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs137852642
rs137852642
NOTCH3
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1388271217
rs1388271217
PGR ; PGR-AS1
1 11 101128477 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs140325655
rs140325655
KCNK18
1 10 117201263 missense variant T/C snv 6.4E-03 6.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs142077957
rs142077957
PGR ; PGR-AS1
1 11 101127985 synonymous variant C/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs16022
rs16022
CACNA1A
1 19 13298882 missense variant C/G;T snv 0.13; 4.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs16023
rs16023
CACNA1A
1 19 13298658 missense variant T/A;C snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2013 2013
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2010 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
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 2012 2012
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 < 0.001 1 2014 2014
dbSNP: rs1979572
rs1979572
NSRP1
2 1.000 0.040 17 30184960 synonymous variant G/A snv 0.52 0.49 0.010 1.000 1 2010 2010
dbSNP: rs2009658
rs2009658
LTA ; LOC100287329
4 0.882 0.160 6 31570467 upstream gene variant C/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2020942
rs2020942
SLC6A4
2 17 30219896 intron variant C/T snv 0.34 0.010 < 0.001 1 2011 2011