Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691049
SDHB
0.882 0.080 1 17054019 start lost T/A snv 5
rs1131691055
SDHB
0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 4
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1186206565
PECAM1
17 64352432 missense variant C/T snv 1
rs1209914140
SDHB
0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 3
rs121908585
PDGFRA
0.827 0.080 4 54285926 missense variant A/T snv 9
rs121908586
PDGFRA
1.000 0.080 4 54274869 missense variant T/A;C snv 5
rs121913234
KIT
4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins 1
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv 3
rs121913262
PDGFRA
4 54285925 inframe deletion GACATCATG/- del 1
rs121913264
PDGFRA
4 54285925 missense variant GA/AT mnv 1
rs121913265
PDGFRA
4 54285925 missense variant G/T snv 2
rs121913267
PDGFRA
4 54285928 inframe deletion ATCATGCATGAT/- del 1
rs121913269
PDGFRA
4 54285921 inframe deletion GAGACA/- delins 1
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv 25
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913509
KIT
1.000 0.080 4 54736528 missense variant G/A snv 2
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 10
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 6
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 6