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: rs200922190
rs200922190
CDC73
1 1.000 0.040 1 193234361 intron variant -/ATAATT delins 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.833 6 2007 2016
dbSNP: rs71361504
rs71361504
BRCA1 ; NBR2
2 0.925 0.120 17 43125988 intron variant -/GTT delins 0.010 1.000 1 2015 2015
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2013 2013
dbSNP: rs10859871
rs10859871 		2 1.000 0.040 12 95318100 intron variant A/C snv 0.37 0.850 1.000 5 2012 2017
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.020 0.500 2 2012 2019
dbSNP: rs1750034
rs1750034
SYNJ2
1 1.000 0.040 6 158059112 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs6546324
rs6546324
LOC105374786
1 1.000 0.040 2 67629358 intron variant A/C snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs7041895
rs7041895 		3 1.000 0.040 9 22162795 intergenic variant A/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs7201
rs7201
MMP2
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs756384853
rs756384853
CD44
1 1.000 0.040 11 35229167 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2020
dbSNP: rs2237895
rs2237895
KCNQ1
10 0.790 0.240 11 2835964 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs4980524
rs4980524
STIP1
3 0.882 0.080 11 64191787 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs625879
rs625879
BHMT2 ; DMGDH
2 0.925 0.080 5 79085866 intron variant A/C;T snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2003 2016
dbSNP: rs1250248
rs1250248
FN1
4 1.000 0.040 2 215422370 intron variant A/G snv 0.77 0.030 1.000 3 2013 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
dbSNP: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.030 1.000 3 2013 2020
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2016 2020