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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2020
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2005 2020
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2007 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2006 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2003 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2015 2019
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2004 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2016 2019
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.020 1.000 2 2019 2019
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2019 2019
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 2019 2019
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1537373
rs1537373
CDKN2B-AS1
3 0.925 0.120 9 22103342 intron variant T/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1561927
rs1561927
LINC00824
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1630747
rs1630747
SLC5A3 ; MRPS6
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs17458086
rs17458086
SLC2A13
2 0.925 0.120 12 40034837 intron variant T/C snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs200349340
rs200349340
HOTAIR
2 0.925 0.120 12 53962704 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
IGF1
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2195239
rs2195239
IGF1 ; LINC02456
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs3124761
rs3124761
SLC2A6
2 0.925 0.120 9 133474633 intron variant T/C snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs34852782
rs34852782
PRKAG2
2 0.925 0.120 7 151869086 intron variant -/A;AG ins 0.010 1.000 1 2019 2019
dbSNP: rs36115365
rs36115365 		7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019