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: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.710 1.000 1 2011 2011
dbSNP: rs214782
rs214782
TGM3 ; LOC105372503
4 0.851 0.040 20 2301324 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs700635
rs700635
FLACC1
3 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs4796793
rs4796793
STAT3
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.010 1.000 1 2017 2017
dbSNP: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017
dbSNP: rs659857
rs659857
MUS81
2 1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 0.010 1.000 1 2017 2017
dbSNP: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 2 2008 2014
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.700 1.000 1 2014 2014
dbSNP: rs7538876
rs7538876
PADI6
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 2 2008 2014
dbSNP: rs59586681
rs59586681 		4 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2006 2006
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2006 2014
dbSNP: rs16917546
rs16917546
ZNF365 ; LOC105378327
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
4 0.851 0.040 7 130900794 intron variant T/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2228527
rs2228527
ERCC6
3 0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2228529
rs2228529
ERCC6
4 0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2012 2012
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2015 2015
dbSNP: rs2805831
rs2805831
PTCSC2
2 1.000 0.040 9 97704354 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011