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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs4652
rs4652
LGALS3
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2017 2017
dbSNP: rs7628626
rs7628626
CD80 ; TIMMDC1
2 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6510502
rs6510502
COX6B1
2 1.000 0.080 19 35647577 upstream gene variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.800 60 2004 2019
dbSNP: rs2228468
rs2228468
ACKR2 ; CYP8B1 ; KRBOX1
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.020 1.000 2 2013 2018
dbSNP: rs11581557
rs11581557
TRIT1
1 1.000 0.080 1 39862786 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
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 2019 2019
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
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 2017 2017
dbSNP: rs13252298
rs13252298
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.827 0.160 8 127082911 non coding transcript exon variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2105269
rs2105269
GALNT16
4 0.882 0.120 14 69280517 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2236338
rs2236338
GZMB
6 0.851 0.120 14 24631076 missense variant A/G snv 0.24 0.25 0.010 < 0.001 1 2015 2015
dbSNP: rs3741219
rs3741219
MRPL23 ; H19 ; HOTS
10 0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs4705341
rs4705341
CARMN
3 0.882 0.120 5 149426373 non coding transcript exon variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012
dbSNP: rs7186053
rs7186053
CDH1
1 1.000 0.080 16 68805390 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015