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: rs9940464
rs9940464
CDH13
1 1.000 0.040 16 83327170 intron variant T/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs9658676
rs9658676
ACTA2 ; FAS
1 1.000 0.040 10 88990441 non coding transcript exon variant C/A snv 2.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs964756678
rs964756678
HPGDS
1 1.000 0.040 4 94302223 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs9624472
rs9624472
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.040 22 24438763 splice region variant A/G snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs9429942
rs9429942
CR1
2 0.925 0.080 1 207495285 upstream gene variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs9296359
rs9296359
TREML4
1 1.000 0.040 6 41237952 3 prime UTR variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs915942
rs915942
RPL10 ; SNORA70
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.020 1.000 2 2014 2015
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.050 1.000 5 2009 2017
dbSNP: rs8176751
rs8176751
ABO
1 1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.800 1.000 1 2013 2013
dbSNP: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.800 1.000 1 2012 2012
dbSNP: rs8176703
rs8176703
ABO
1 1.000 0.040 9 133260460 intron variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs8176672
rs8176672
ABO
2 1.000 0.040 9 133266772 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs8109875
rs8109875
ZNF536
1 1.000 0.040 19 30578732 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs8078340
rs8078340
NOS2
1 1.000 0.040 17 27802186 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs8019343
rs8019343
RNASE3 ; LOC100507513
2 0.925 0.080 14 20892263 3 prime UTR variant A/T snv 4.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs7855466
rs7855466 		3 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs778499956
rs778499956
PSMD9
1 1.000 0.040 12 121899786 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs77641731
rs77641731
ABO
3 1.000 0.040 9 133257521 missense variant T/C snv 0.700 1.000 1 2012 2012