Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560417535
KIT
4 54727444 inframe deletion TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- del 1
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs1057520034
KIT
4 54727447 missense variant TT/AA mnv 1
rs869025568
KIT
4 54727435 inframe deletion TGGAAG/- delins 1
rs1553887960
KIT
4 54699760 frameshift variant TCAG/- delins 1
rs876658713
SDHB
0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 3
rs878854574
SDHB
0.925 0.080 1 17033147 splice acceptor variant T/G snv 3
rs1057519761
KIT
4 54733175 missense variant T/G snv 2
rs786201316
SDHB
0.925 0.080 1 17028712 frameshift variant T/CC delins 4
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 10
rs10509681
CYP2C8
0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 8
rs786201161
SDHB
0.882 0.080 1 17024076 splice acceptor variant T/C snv 5
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs2855658
RMDN2 ; CYP1B1
2 38069747 3 prime UTR variant T/C snv 0.49 2
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv 2
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 6
rs750380279
CCDC127 ; SDHA
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 6
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv 3
rs121908586
PDGFRA
1.000 0.080 4 54274869 missense variant T/A;C snv 5
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv 2
rs780708976
KIT
4 54727456 missense variant T/A;C snv 1.6E-05 1
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 6