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: rs9974610
rs9974610 		3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs9932581
rs9932581
CYBA ; MVD
1 16 88651945 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs9896208
rs9896208
ACE
1 17 63498748 intron variant T/C snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs9357155
rs9357155
PSMB8
2 1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs9275596
rs9275596 		7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.800 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424 		1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224 		5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs8731
rs8731
SUPT7L ; GPN1
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs869025495
rs869025495
NPHS2
6 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs868580411
rs868580411
COL4A5
2 1.000 X 108602973 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs841853
rs841853
SLC2A1
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2012 2012
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs7947841
rs7947841
CAT
1 11 34470133 intron variant G/A snv 1.0E-01 0.010 1.000 1 2013 2013
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs776400293
rs776400293
TLR3
1 4 186076620 start lost A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7704116
rs7704116
PPP2CA
2 1.000 0.080 5 134216763 intron variant C/T snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs741301
rs741301
ELMO1
3 0.925 0.160 7 36878390 intron variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2013 2013
dbSNP: rs702553
rs702553
PDE4D
6 0.882 0.160 5 60440946 intron variant A/T snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014