Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519813
PDGFRA
1.000 0.040 4 54285923 missense variant G/A snv 1
rs1057519814
PDGFRA
1.000 0.040 4 54285934 missense variant C/T snv 1
rs1057519815
RAF1
1.000 0.040 3 12599696 missense variant C/G snv 1
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv 2
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1057519856
MAP2K1
0.925 0.040 15 66436815 missense variant T/A snv 2
rs1057519860
EGFR
0.851 0.080 7 55160316 missense variant C/A snv 5
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv 9
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv 2
rs1060502550
KIT
1.000 0.040 4 54727488 missense variant A/G snv 1
rs1063045
NBN
1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33 1
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv 3
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26
rs10739221
LINC01505
0.851 0.080 9 106298549 intron variant T/C;G snv 5
rs10754833
NID1
0.851 0.040 1 236021631 intron variant T/A;C snv 4
rs10757257
MTAP
0.882 0.080 9 21806565 intron variant G/A snv 0.34 3
rs10816595 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 4
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29 4
rs10852628
DBNDD1
1.000 0.040 16 90013519 intron variant C/A;T snv 1
rs10931936
CASP8
0.827 0.120 2 201279205 intron variant T/C snv 0.72 6
rs10951982
RAC1
0.851 0.160 7 6382925 intron variant G/A;T snv 5
rs11076650
AFG3L1P
1.000 0.040 16 90001533 non coding transcript exon variant G/A snv 0.49 1
rs1110400
MC1R
1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 3