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: rs113994087
rs113994087
ALK
4 0.827 0.120 2 29209798 missense variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs113994088
rs113994088
ALK
3 0.925 0.080 2 29222584 missense variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs113994089
rs113994089
ALK
3 0.925 0.120 2 29220776 missense variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 3 2011 2019
dbSNP: rs121913338
rs121913338
BRAF
12 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913407
rs121913407
CTNNB1
10 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 1 2014 2014
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
3 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 2 2006 2016
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: rs1057519887
rs1057519887
EGFR
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
EGFR
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs769696078
rs769696078
EGFR
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
4 0.742 0.160 1 226064451 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
18 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 2 2010 2018
dbSNP: rs121913499
rs121913499
IDH1
16 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
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: rs121913503
rs121913503
IDH2
5 0.689 0.200 15 90088606 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
19 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
PIK3CA
23 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016