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: rs1057519828
rs1057519828
EGFR
1 7 55143387 missense variant G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1057519829
rs1057519829
EGFR
1 7 55154050 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1802710
rs1802710
DLK1
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
dbSNP: rs63749833
rs63749833
MLH1
1 3 36996639 missense variant G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs754820004
rs754820004
CUL3
1 2 224557736 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762584624
rs762584624
MYL2
1 12 110919162 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs774265827
rs774265827
VEGFA
1 6 43780773 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs777169839
rs777169839
PPARGC1A
2 4 23828453 missense variant T/C;G snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs587780076
rs587780076
TP53
2 17 7673743 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs1057519887
rs1057519887
EGFR
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
4 0.882 0.040 2 15940679 frameshift variant C/-;CC delins 0.010 1.000 1 2013 2013
dbSNP: rs1476157710
rs1476157710
WNT10B
3 0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs374052197
rs374052197
PDPN
5 0.882 0.040 1 13610421 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs745934102
rs745934102
PDPN
5 0.882 0.040 1 13607281 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs757066045
rs757066045
CDKN2A
4 0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs766727892
rs766727892
TCF7L2
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs769696078
rs769696078
EGFR
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs771563543
rs771563543
ZEB1
5 0.851 0.040 10 31510841 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs867657798
rs867657798
TCF4
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs868162712
rs868162712
TCF4
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 < 0.001 1 2002 2002
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.020 0.500 2 2018 2019
dbSNP: rs139236063
rs139236063
EGFR
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 2 2006 2016
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 2 2006 2016
dbSNP: rs1057519888
rs1057519888
EGFR
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016