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: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2008 2008
dbSNP: rs1177306304
rs1177306304
RREB1
1 6 7246729 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs11888095
rs11888095
R3HDM1 ; MIR128-1
1 2 135665214 intron variant C/T snv 0.17 0.010 1.000 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 0.010 1.000 1 2019 2019
dbSNP: rs1249472918
rs1249472918
TMEM189 ; TMEM189-UBE2V1
1 20 50143583 missense variant A/G snv 4.0E-06 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1377510319
rs1377510319
RNF40 ; ZNF629
1 16 30782004 missense variant G/A;C snv 4.7E-06 0.010 1.000 1 2008 2008
dbSNP: rs1412919356
rs1412919356
RREB1
1 6 7246731 stop gained C/A;T snv 5.3E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2003 2003
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs3738708
rs3738708
PARP1
3 0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs374057152
rs374057152
VEGFA
3 0.925 0.200 6 43777592 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2009 2009
dbSNP: rs73598395
rs73598395
UBE2V1 ; TMEM189-UBE2V1
1 20 50082842 missense variant G/A snv 0.010 1.000 1 2008 2008