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: rs186133190
rs186133190
WDPCP
3 0.882 0.080 2 63550724 intron variant T/C snv 4.9E-04 0.700 1.000 1 2015 2015
dbSNP: rs1990330
rs1990330
TEAD4
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs206118
rs206118
BRCA2
2 0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2111398
rs2111398 		3 0.882 0.080 12 12922268 downstream gene variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2290419
rs2290419
LOC338694
3 0.882 0.080 11 69152181 intron variant A/G snv 4.6E-02 0.700 1.000 1 2015 2015
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: rs35158985
rs35158985
CDH1
6 0.882 0.080 16 68762843 intron variant A/G snv 0.38 0.700 1.000 1 2015 2015
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 1.000 6 2010 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 1.000 6 2010 2016
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: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.710 1.000 2 2014 2016
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 2016