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: rs3752447
rs3752447
N4BP2L1
2 0.925 0.080 13 32407005 non coding transcript exon variant C/T snv 0.17 0.010 1.000 1 2015 2015
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: 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: rs4731742
rs4731742
LINC-PINT
3 0.882 0.080 7 131070053 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs4778138
rs4778138
OCA2
6 0.851 0.080 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
2 0.925 0.080 16 89718699 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6750047
rs6750047
RMDN2
4 0.851 0.080 2 38049406 intron variant A/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs6914598
rs6914598
CDKAL1
4 0.851 0.080 6 21163688 intron variant T/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs7041168
rs7041168 		3 0.882 0.080 9 107936435 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs75691080
rs75691080 		3 0.882 0.080 20 63638397 downstream gene variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
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
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.710 1.000 2 2016 2017
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519732
rs1057519732
MAP2K1
6 0.827 0.160 15 66436824 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519742
rs1057519742
GNA11
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016