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: rs1371429276
rs1371429276
PTPRT
1 1.000 0.080 20 42472359 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs63749803
rs63749803
MLH1
1 1.000 0.080 3 37004421 missense variant T/C;G snv 0.700 0
dbSNP: rs63750297
rs63750297
MLH1
1 1.000 0.080 3 37004412 missense variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs63750623
rs63750623
MSH2
4 0.925 0.160 2 47480707 stop gained C/G;T snv 0.700 0
dbSNP: rs63750709
rs63750709
MSH2
2 0.925 0.160 2 47480846 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63750795
rs63750795
MSH2
1 1.000 0.080 2 47480854 missense variant T/G snv 0.700 0
dbSNP: rs63750966
rs63750966
MSH2
1 1.000 0.080 2 47403240 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63751047
rs63751047
MLH1
1 1.000 0.080 3 37048525 missense variant C/A;G snv 0.700 0
dbSNP: rs63751400
rs63751400
MSH2
1 1.000 0.080 2 47480839 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs768678989
rs768678989
MET
1 1.000 0.080 7 116771932 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs771333219
rs771333219
MET
1 1.000 0.080 7 116759444 missense variant C/T snv 1.2E-04 8.4E-05 0.700 0
dbSNP: rs780759537
rs780759537
CDH1
1 1.000 0.080 16 68822082 missense variant G/A snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1135354
rs1135354
IL18R1
3 0.925 0.080 2 102397842 3 prime UTR variant T/G snv 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2018 2018
dbSNP: rs11536878
rs11536878
TLR4
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1165109290
rs1165109290
SOD2
2 0.925 0.080 6 159692850 synonymous variant G/A snv 4.2E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1457547311
rs1457547311
IL1RN
4 0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1562430
rs1562430
POU5F1B ; CASC8 ; PCAT1 ; CASC21
6 0.807 0.160 8 127375606 intron variant T/C snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2018 2018