Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519805
MAP2K1
1.000 0.040 15 66436839 missense variant T/C snv 3
rs1110400
MC1R
1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 3
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 3
rs766310650
CDKN1A ; DINOL
1.000 0.040 6 36677906 5 prime UTR variant T/C snv 6.2E-05 2.1E-05 3
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 2
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv 2
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv 2
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv 2
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv 2
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv 2
rs11547464
MC1R
1.000 0.040 16 89919683 missense variant G/A snv 5.3E-03 4.7E-03 2
rs1204552
NORAD
1.000 0.040 20 36050981 non coding transcript exon variant T/A;C;G snv 2
rs121909233
KLLN ; PTEN
1.000 0.040 10 87864524 missense variant G/A snv 2
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv 2
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv 2
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 2
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv 2
rs138106763
SLC12A9
1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 2
rs1487774219
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22008910 missense variant T/C snv 8.1E-06 2
rs1885120
LOC107985393 ; MIR499A ; MYH7B
1.000 0.040 20 34989186 intron variant C/G snv 0.96 2
rs200375589
KIT
1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 2
rs215605
PDE1C
1.000 0.040 7 32297353 intron variant G/T snv 0.54 2
rs2353033
LOC100287036 ; ANKRD11
1.000 0.040 16 89319153 intron variant C/T snv 0.51 2
rs291671
CDK5RAP1
1.000 0.040 20 33363039 intron variant G/A snv 0.92 2