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: rs1179225338
rs1179225338
TLR4
4 0.851 0.120 9 117713505 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
10 0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67 0.010 1.000 1 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2012 2018
dbSNP: rs768873896
rs768873896
MTHFR
7 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.769 13 2004 2019
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3826392
rs3826392
MAP2K4 ; ZNF18
5 0.827 0.200 17 12019587 intron variant G/T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs3809728
rs3809728
MAP2K4 ; ZNF18
4 0.851 0.120 17 12019847 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1834306
rs1834306
MIR100HG ; MIR100 ; MIR10526
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs300574
rs300574
SPRY1
3 0.882 0.080 4 123402583 3 prime UTR variant T/C snv 0.58 0.54 0.010 1.000 1 2016 2016
dbSNP: rs10893506
rs10893506
ST3GAL4
5 0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41 0.010 1.000 1 2014 2014
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2018 2018
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2012 2012
dbSNP: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs1195571
rs1195571 		3 0.882 0.080 12 130739483 intergenic variant T/C snv 0.97 0.010 < 0.001 1 2019 2019
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2019 2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2014 2014
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017