Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1805076
PPP2R1B
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 1
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 1
rs200100285
MTHFR
0.851 0.080 1 11796313 missense variant T/C;G snv 1.9E-04 1
rs121965039
OAT
0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 7
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs397516895
BRAF
0.827 0.280 7 140753392 missense variant A/T snv 5
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv 1
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 2
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16