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: rs7803454
rs7803454
PILRA
4 0.851 0.040 7 100393925 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2018 2018
dbSNP: rs67538026
rs67538026
CNN2
4 0.851 0.040 19 1031439 intron variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs28368872
rs28368872 		3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1142
rs1142
SRPK2
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2285714
rs2285714
PLA2G12A
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.020 1.000 2 2012 2014
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.710 1.000 3 2012 2016
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs61941274
rs61941274
ACAD10
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2019
dbSNP: rs2736911
rs2736911
ARMS2 ; LOC105378525
3 0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 13 2010 2017
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.020 1.000 2 2010 2015
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.730 1.000 4 2008 2017
dbSNP: rs2284665
rs2284665
HTRA1
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3918227
rs3918227
NOS3
1 1.000 0.040 7 151003858 3 prime UTR variant C/A snv 6.8E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs7830
rs7830
NOS3 ; ATG9B
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.010 < 0.001 1 2016 2016
dbSNP: rs3800787
rs3800787
ATG9B
1 1.000 0.040 7 151016548 intron variant G/A;C;T snv 0.41; 1.3E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2009 2009