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: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs693421
rs693421 		1 1.000 0.040 1 237935790 downstream gene variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs79721419
rs79721419 		4 0.851 0.160 9 22200957 downstream gene variant G/A snv 7.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.100 0.917 12 2011 2019
dbSNP: rs4236601
rs4236601 		4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.080 1.000 8 2011 2018
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2013 2018
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs11771443
rs11771443
NOS3
8 0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs6994076
rs6994076
TTPA
1 1.000 0.040 8 63087002 upstream gene variant A/T snv 0.57 0.010 < 0.001 1 2013 2013
dbSNP: rs757228
rs757228
GPX4
2 0.925 0.120 19 1101993 upstream gene variant A/G snv 0.54 0.010 < 0.001 1 2013 2013
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs7943316
rs7943316
CAT
2 0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57 0.010 < 0.001 1 2018 2018
dbSNP: rs166850
rs166850
OPA1
2 0.925 0.160 3 193637285 splice region variant T/A;C snv 0.87 0.010 < 0.001 1 2017 2017
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.030 1.000 3 2012 2015
dbSNP: rs1192415
rs1192415 		4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.020 1.000 2 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2018
dbSNP: rs112983858
rs112983858
CD48
1 1.000 0.040 1 160681172 frameshift variant C/-;CC;CCC delins 5.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs751497460
rs751497460
CD48
1 1.000 0.040 1 160681173 frameshift variant -/T ins 5.6E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs1564354968
rs1564354968
OPTN
3 0.882 0.040 10 13109279 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.050 0.800 5 2011 2017
dbSNP: rs1051993
rs1051993
AGER ; PBX2
1 1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs16984299
rs16984299
TXNRD2
1 1.000 0.040 22 19876070 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2018 2018