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 0.020 0.500 2 2013 2015
dbSNP: rs70991108
rs70991108
DHFR ; MSH3
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2011 2011
dbSNP: rs12500426
rs12500426
PDLIM5
5 0.851 0.240 4 94593458 intron variant A/C snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs1536826
rs1536826
CYP2E1
1 1.000 0.120 10 133543735 intron variant A/C snv 0.62 0.010 1.000 1 2009 2009
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs2231231
rs2231231
AQP3
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs6457327
rs6457327 		7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.700 1.000 1 2010 2010
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs7201
rs7201
MMP2
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs770251749
rs770251749
MLIP
2 1.000 0.120 6 54121506 missense variant A/C snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs9260484
rs9260484
HLA-A
1 1.000 0.120 6 29952476 upstream gene variant A/C snv 0.62 0.700 1.000 1 2009 2009
dbSNP: rs2076483
rs2076483
GABBR1
2 0.925 0.240 6 29603768 intron variant A/C;G snv 3.1E-05; 0.13 0.710 1.000 2 2010 2017
dbSNP: rs29230
rs29230
GABBR1
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.700 1.000 2 2010 2012
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs2735839
rs2735839 		7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs3790844
rs3790844
NR5A2
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs7127900
rs7127900 		3 0.882 0.160 11 2212344 intergenic variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs7130881
rs7130881
LOC105369367
3 0.882 0.160 11 69228491 intergenic variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs2860580
rs2860580
HLA-A
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.720 1.000 3 2010 2017
dbSNP: rs9110
rs9110
LTF
4 0.851 0.200 3 46439310 missense variant A/C;G;T snv 0.39 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2010 2010