Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 1
rs1057519955
CNOT9
1.000 0.080 2 218584682 missense variant C/T snv 1
rs267599211
CNOT9
0.882 0.080 2 218584683 missense variant C/T snv 1
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 1
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs137854599
CDKN2A
0.882 0.080 9 21971093 missense variant C/G;T snv 2
rs1057519885
CFAP61 ; CRNKL1
0.925 0.080 20 20052443 missense variant G/A snv 2
rs267600971
CYP21A2 ; STK19 ; DXO
0.882 0.080 6 31972346 missense variant G/A snv 2
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv 2
rs1057519880
IRF3 ; BCL2L12
0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06 2
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv 2
rs868438023
KNSTRN
0.882 0.080 15 40382906 missense variant C/T snv 2
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 2
rs763733111
PPP6C
0.925 0.120 9 125149801 missense variant G/A snv 4.0E-06 2
rs1057519786
ARAF
0.882 0.160 X 47566722 missense variant C/G;T snv 3
rs1057519876
ARAF
0.882 0.160 X 47566721 missense variant T/G snv 3
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 3
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 3