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: rs1019221239
rs1019221239
APC
3 0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs1058818
rs1058818
TTTY14
2 0.925 0.200 Y 18991654 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1058881
rs1058881
TTTY14
2 0.925 0.200 Y 18991085 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1060503288
rs1060503288
APC
1 1.000 0.120 5 112839999 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1060503323
rs1060503323
APC
3 0.925 0.120 5 112780782 splice region variant G/A snv 0.700 0
dbSNP: rs1060503333
rs1060503333
APC
3 0.925 0.120 5 112821953 stop gained C/A;G snv 0.700 0
dbSNP: rs1060503366
rs1060503366
APC
2 0.925 0.120 5 112819276 frameshift variant -/T delins 0.700 0
dbSNP: rs1064793716
rs1064793716
APC
2 0.925 0.120 5 112835163 splice region variant C/T snv 0.700 0
dbSNP: rs1064794163
rs1064794163
APC
2 1.000 0.120 5 112827106 splice acceptor variant A/C;G;T snv 0.700 1.000 3 2004 2017
dbSNP: rs1064795228
rs1064795228
APC
1 1.000 0.120 5 112839048 stop gained C/G;T snv 0.700 0
dbSNP: rs1114167567
rs1114167567
APC
2 1.000 0.120 5 112815548 frameshift variant ACAC/-;AC delins 0.700 0
dbSNP: rs1114167569
rs1114167569
APC
3 0.925 0.120 5 112835166 splice donor variant G/A snv 0.700 0
dbSNP: rs1114167594
rs1114167594
APC
3 0.925 0.120 5 112828885 frameshift variant T/- delins 0.700 0
dbSNP: rs11283943
rs11283943
MCC
4 0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 0.010 1.000 1 2011 2011
dbSNP: rs1131691143
rs1131691143
APC
3 0.925 0.120 5 112838394 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs1179254201
rs1179254201
APC
2 0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1182822563
rs1182822563
APC
2 0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 13 1992 2018
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 0