Source: CLINVAR ×
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: rs1554040964
rs1554040964
TERT
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs1554043088
rs1554043088
TERT
1 1.000 0.080 5 1294548 frameshift variant -/C delins 0.700 1.000 1 2017 2017
dbSNP: rs1554043124
rs1554043124
TERT
1 1.000 0.080 5 1294790 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs121434587
rs121434587
IGF2R
1 1.000 0.080 6 160069961 missense variant G/T snv 0.700 0
dbSNP: rs121434588
rs121434588
IGF2R
1 1.000 0.080 6 160070006 missense variant G/A snv 0.700 0
dbSNP: rs1553631896
rs1553631896
CTNNB1
1 1.000 0.080 3 41233836 frameshift variant -/A delins 0.700 0
dbSNP: rs397514032
rs397514032
APC
1 1.000 0.080 5 112828923 frameshift variant A/- delins 0.700 0
dbSNP: rs587776627
rs587776627
AXIN1
1 1.000 0.080 16 309973 frameshift variant GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- del 0.700 0
dbSNP: rs587776665
rs587776665
CASP8
1 1.000 0.080 2 201285238 frameshift variant GT/- delins 0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs778624338
rs778624338
CTNNB1
2 1.000 0.080 3 41227270 stop gained C/A;T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1057519958
rs1057519958
RXRA
3 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912654
rs121912654
TP53
3 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.720 1.000 0 2011 2011
dbSNP: rs1057519959
rs1057519959
SF3B2
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs28934571
rs28934571
TP53
4 0.645 0.360 17 7674216 missense variant C/A;G snv 0.800 1.000 0 1994 2020
dbSNP: rs1057519906
rs1057519906
IDH2
5 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913503
rs121913503
IDH2
5 0.689 0.200 15 90088606 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962
SF3B1
5 0.851 0.200 2 197402637 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs770248150
rs770248150
KRAS
6 0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016