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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1064795369
rs1064795369
TP53
3 0.882 0.080 17 7673791 missense variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1230076983
rs1230076983
PDGFRA
1 1.000 0.040 4 54267656 missense variant A/G snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs561082994
rs561082994
PDGFRA
1 1.000 0.040 4 54261112 missense variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs730882002
rs730882002
TP53
6 0.925 0.040 17 7674956 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs745770540
rs745770540
APC
1 1.000 0.040 5 112738434 5 prime UTR variant G/A snv 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs765433422
rs765433422
PTEN
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs773795578
rs773795578
ABL1
1 1.000 0.040 9 130714356 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs876659157
rs876659157
APC
1 1.000 0.040 5 112821917 missense variant A/G snv 1.4E-05 0.010 1.000 1 2018 2018