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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 0.667 3 2010 2016
dbSNP: rs2995264
rs2995264
STN1
4 0.851 0.080 10 103909085 intron variant G/A snv 0.88 0.700 1.000 1 2015 2015
dbSNP: rs10739221
rs10739221
LINC01505
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1484375
rs1484375
LINC01505
3 0.882 0.080 9 106305280 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7041168
rs7041168 		3 0.882 0.080 9 107936435 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs73008229
rs73008229
ATM ; C11orf65
3 0.882 0.080 11 108316962 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs587777894
rs587777894
MTOR
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
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: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.710 1.000 2 2013 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4731207
rs4731207
GPR37
3 0.882 0.080 7 124756591 intron variant G/A snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs763733111
rs763733111
PPP6C
2 0.925 0.120 9 125149801 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
MYC ; CASC11
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
MYC ; CASC11
6 0.851 0.200 8 127738435 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7944031
rs7944031
TEAD1
2 0.925 0.080 11 12907573 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015