Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv 7
rs587776653
SDHC
0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 7
rs750380279
CCDC127 ; SDHA
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 6
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
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins 6
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 6
rs398122805
SDHB
0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 6
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 6
rs74315369
SDHB
0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 6
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 6
rs1285675735
SORD
0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 6
rs1057519711
KIT
0.882 0.240 4 54733168 missense variant T/A snv 5
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 5
rs121908586
PDGFRA
1.000 0.080 4 54274869 missense variant T/A;C snv 5
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5
rs1131691049
SDHB
0.882 0.080 1 17054019 start lost T/A snv 5
rs138996609
SDHB
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 5
rs267607032
SDHB
0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 5
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv 5
rs397516836
SDHB
0.882 0.080 1 17024015 stop gained C/A;T snv 5
rs587781270
SDHB
0.882 0.080 1 17033058 splice donor variant A/T snv 5
rs587782243
SDHB
0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 5
rs74315367
SDHB
0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 5
rs74315368
SDHB
0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 5