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: rs12762549
rs12762549
1 1.000 0.040 10 99861014 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1375515
rs1375515
1 1.000 0.040 3 54442613 intron variant C/T snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1868505
rs1868505
1 1.000 0.040 3 54387228 intron variant T/C snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs33950542
rs33950542
HBB
1 1.000 0.040 11 5226665 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs363717
rs363717
1 1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs368002262
rs368002262
GPI
1 1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs461645
rs461645
1 1.000 0.040 19 6919742 missense variant A/G;T snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs542998
rs542998
1 1.000 0.040 11 63719914 missense variant T/A;C snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs1554544862
rs1554544862
1 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 0.700 0
dbSNP: rs11854484
rs11854484
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1196547982
rs1196547982
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1470452230
rs1470452230
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1531289
rs1531289
KDR
2 0.925 0.080 4 55089065 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs373533
rs373533
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2014 2014
dbSNP: rs377001714
rs377001714
2 1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs6780995
rs6780995
2 0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 0.010 1.000 1 2013 2013
dbSNP: rs7072268
rs7072268
HK1
2 0.925 0.120 10 69340157 intron variant T/C snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs768843272
rs768843272
2 0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.040 1.000 4 2013 2020
dbSNP: rs760370
rs760370
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.030 0.333 3 2015 2017
dbSNP: rs10132552
rs10132552
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs10761745
rs10761745
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.010 1.000 1 2017 2017
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs4150558
rs4150558
3 0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs41518645
rs41518645
CYTB ; ND6
3 0.925 0.200 MT 15257 missense variant G/A snv 0.010 1.000 1 2019 2019