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 0.700 1.000 1 2016 2016
dbSNP: rs779795819
rs779795819
MLH1
2 0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
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: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 1.000 1 2001 2001
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: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 0
dbSNP: rs869312768
rs869312768
MSH2
2 0.925 0.160 2 47429865 frameshift variant -/TT delins 0.700 0
dbSNP: rs869312783
rs869312783
BMPR1A
2 1.000 0.080 10 86892181 frameshift variant -/TTAG delins 0.700 0
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.710 1.000 7 2008 2019
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs16973225
rs16973225
LOC102724001
9 0.790 0.080 15 81937658 intron variant A/C snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2184857
rs2184857
LOC105373224
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs4147536
rs4147536
ADH1B
2 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs6058093
rs6058093
PIGU
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs6720296
rs6720296
LINC01121
9 0.790 0.080 2 45181130 intron variant A/C snv 0.52 0.700 1.000 1 2015 2015
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 2017 2017
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs73975588
rs73975588
NXN
9 0.790 0.080 17 913501 intron variant A/C snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
10 0.776 0.080 16 68710036 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs121909242
rs121909242
PPARG
2 0.925 0.080 3 12416825 missense variant A/C snv 0.700 0
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.700 0
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs11150038
rs11150038
CLEC3A
10 0.790 0.080 16 78042662 intron variant A/C;G snv 0.700 1.000 1 2015 2015