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: rs1320553543
rs1320553543
VAV1
1 1.000 0.040 19 6836546 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1034265990
rs1034265990
CDKN2A
2 0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519860
rs1057519860
EGFR
5 0.851 0.080 7 55160316 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2019 2019
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs397507482
rs397507482
BRAF
3 0.882 0.040 7 140753386 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs749499406
rs749499406
ACD
1 1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs75570604
rs75570604
FANCA
4 0.851 0.080 16 89780269 intron variant G/C snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs869329
rs869329
MTAP
4 0.851 0.080 9 21804694 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs869330
rs869330
MTAP
2 0.925 0.080 9 21804618 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs947005337
rs947005337
POT1
2 0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2018 2019
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: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs137854567
rs137854567
APC
3 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2536512
rs2536512
SOD3
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs34090186
rs34090186
MC1R
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs542002959
rs542002959
NLRP1
2 0.925 0.120 17 5558937 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs587780004
rs587780004
PTEN
1 1.000 0.040 10 87894057 missense variant C/A;T snv 0.010 1.000 1 2018 2018