Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786201063
SDHB
0.882 0.080 1 17033059 splice donor variant C/T snv 5
rs786201161
SDHB
0.882 0.080 1 17024076 splice acceptor variant T/C snv 5
rs786202732
SDHB
0.882 0.080 1 17024041 missense variant A/G snv 5
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv 5
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 5
rs1060503751
SDHB
0.882 0.080 1 17028691 frameshift variant AG/- delins 4
rs1060503764
SDHB
0.925 0.080 1 17022655 frameshift variant -/A delins 4
rs1131691055
SDHB
0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 4
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs267606600
NF1
1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 4
rs397516835
SDHB
0.925 0.080 1 17024040 missense variant C/G;T snv 4
rs398123690
SDHB
0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 4
rs587776652
SDHC
0.882 0.200 1 161314408 start lost G/A snv 4
rs587778661
SDHC
0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 4
rs587782617
SDHB
0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 4
rs786201316
SDHB
0.925 0.080 1 17028712 frameshift variant T/CC delins 4
rs786202100
SDHB
0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 4
rs786203506
SDHB
0.925 0.080 1 17028649 stop gained G/A;C;T snv 4
rs878854575
SDHB
0.882 0.080 1 17033075 stop gained T/A snv 4
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv 3
rs1060503752
SDHB
0.925 0.080 1 17023994 frameshift variant CA/- del 3
rs1060503753
SDHB
0.925 0.080 1 17027790 stop gained T/A snv 3
rs1060503759
SDHB
0.925 0.080 1 17024013 stop gained C/T snv 3
rs1060503762
SDHB
0.925 0.080 1 17044820 stop gained C/T snv 3