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: rs143046984
rs143046984
PCNX1 ; LOC105370557
9 0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02 0.710 1.000 1 2016 2016
dbSNP: rs6147150
rs6147150
ERBB4
5 0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.750 20 2006 2018
dbSNP: rs771306418
rs771306418
OGG1 ; CAMK1
5 0.851 0.120 3 9765885 splice acceptor variant -/C delins 0.020 0.500 2 2005 2009
dbSNP: rs202110856
rs202110856
ERAP1
9 0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs587780078
rs587780078
MUTYH
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.700 1.000 6 2004 2012
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1567755946
rs1567755946
AXIN2
2 0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 0.700 0
dbSNP: rs863223400
rs863223400
RPS20 ; SNORD54 ; CERNA3
1 1.000 0.080 8 56073724 frameshift variant -/T delins 0.010 1.000 1 2017 2017
dbSNP: rs377429877
rs377429877
STARD13
10 0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2017 2017
dbSNP: rs70991108
rs70991108
DHFR ; MSH3
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.020 0.500 2 2015 2018
dbSNP: rs587776642
rs587776642
BUB1
1 1.000 0.080 2 110638153 frameshift variant A/- del 0.700 0
dbSNP: rs587776687
rs587776687
PPARG
1 1.000 0.080 3 12392683 frameshift variant A/- delins 0.700 0
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.900 1.000 19 2008 2019
dbSNP: rs180177033
rs180177033
BRAF
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 10 2006 2015
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.050 0.800 5 2007 2019
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.730 0.667 3 2005 2019
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.030 1.000 3 2014 2017
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.030 1.000 3 2014 2019
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.800 1.000 2 2013 2019
dbSNP: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.020 1.000 2 2014 2019
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2018 2018
dbSNP: rs115797771
rs115797771
KLF5
6 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 0.010 1.000 1 2015 2015