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: rs121913353
rs121913353
BRAF
3 0.925 0.160 7 140781612 missense variant C/G;T snv 0.700 1.000 2 2003 2004
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2004 2004
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2004 2004
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 1.000 2 2004 2005
dbSNP: rs1394960893
rs1394960893
GSTP1
6 0.807 0.240 11 67586553 synonymous variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1554350366
rs1554350366
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181324 protein altering variant -/GCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs376919235
rs376919235
MPO
1 1.000 0.080 17 58279366 synonymous variant A/G snv 1.4E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs397517114
rs397517114
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181323 protein altering variant -/CCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs55985569
rs55985569
MET
3 0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03 0.010 1.000 1 2005 2005
dbSNP: rs772309774
rs772309774
RARB
1 1.000 0.080 3 25593661 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs776310470
rs776310470
DAP
1 1.000 0.080 5 10680713 synonymous variant G/A snv 4.6E-04 5.8E-04 0.010 1.000 1 2005 2005
dbSNP: rs397516980
rs397516980
ERBB2 ; MIR4728
1 1.000 0.080 17 39724744 protein altering variant G/TTAT delins 0.700 1.000 3 2005 2006
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
2 1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 0.700 1.000 2 2005 2006
dbSNP: rs397517116
rs397517116
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181325 inframe insertion -/CACGTG delins 0.700 1.000 2 2005 2006
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1180868926
rs1180868926
OGG1 ; CAMK1
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1181005582
rs1181005582
MPG ; NPRL3
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs139002770
rs139002770
ERCC2
2 0.925 0.200 19 45352772 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1436873982
rs1436873982
XRCC1
2 0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs144271525
rs144271525
NLRP2
2 0.925 0.200 19 54983044 missense variant C/T snv 1.7E-04 3.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs146084801
rs146084801
NLRP2
2 0.925 0.200 19 54983245 missense variant C/T snv 4.4E-05 1.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs148298598
rs148298598
APEX1
2 0.925 0.200 14 20457111 missense variant G/A snv 2.3E-04 2.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs148576448
rs148576448
MPG ; NPRL3
2 0.925 0.200 16 85461 missense variant G/A snv 8.0E-05 8.4E-05 0.010 1.000 1 2006 2006