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: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs6744811
rs6744811
SNHG31
1 1.000 0.040 2 214812584 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.100 1.000 11 1995 2018
dbSNP: rs110419
rs110419
LMO1 ; LOC105376536
8 0.827 0.200 11 8231306 intron variant A/G snv 0.42 0.850 1.000 7 2011 2020
dbSNP: rs10840002
rs10840002 		3 0.882 0.080 11 8221479 downstream gene variant A/G snv 0.49 0.040 1.000 4 2016 2020
dbSNP: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.840 1.000 4 2008 2017
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.030 1.000 3 1999 2007
dbSNP: rs201216664
rs201216664
NME2 ; NME1-NME2
5 0.851 0.080 17 51171503 missense variant A/G snv 0.030 1.000 3 1995 1999
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.020 1.000 2 2014 2018
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 2014 2015
dbSNP: rs17489363
rs17489363
BARD1 ; SNHG31
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs74315406
rs74315406
PRNP
5 0.851 0.160 20 4699870 missense variant A/G snv 0.020 1.000 2 1997 2000
dbSNP: rs10055201
rs10055201
IL31RA
3 0.882 0.080 5 55865274 intron variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs10132733
rs10132733
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22477241 intron variant A/G snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs10483273
rs10483273
LOC105370401
1 1.000 0.040 14 22448054 intron variant A/G snv 9.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs10895322
rs10895322
MMP20
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.710 1.000 1 2017 2017
dbSNP: rs10932572
rs10932572
BARD1
1 1.000 0.040 2 214762673 intron variant A/G snv 0.42 0.700 1.000 1 2009 2009
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs11623995
rs11623995
LOC105370401
1 1.000 0.040 14 22436733 intron variant A/G snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs11624054
rs11624054
LOC105370401
1 1.000 0.040 14 22406085 intron variant A/G snv 0.71 0.700 1.000 1 2009 2009
dbSNP: rs11984094
rs11984094 		1 1.000 0.040 7 38323965 upstream gene variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs1374230
rs1374230
BARD1
1 1.000 0.040 2 214754055 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009
dbSNP: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017