Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 2
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs104894302
SDHD
0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 4
rs104894304
SDHD
0.827 0.240 11 112094831 missense variant A/G snv 5
rs104894305
SDHD ; TIMM8B
0.851 0.240 11 112087899 stop gained C/A snv 4
rs104894306
TIMM8B ; SDHD
0.882 0.200 11 112087868 stop gained C/T snv 4
rs104894307
SDHD ; TIMM8B
0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 5
rs104894308
TIMM8B ; SDHD
0.882 0.200 11 112087933 stop gained G/A snv 4
rs104894309
TIMM8B ; SDHD
0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 4
rs104894310
SDHD ; TIMM8B
1.000 0.040 11 112086921 stop gained G/A snv 1
rs1050032491
SDHD
0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 4
rs1060503751
SDHB
0.882 0.080 1 17028691 frameshift variant AG/- delins 4
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
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5
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
rs1060503763
SDHB
0.925 0.080 1 17027848 stop gained A/C snv 3
rs1060503764
SDHB
0.925 0.080 1 17022655 frameshift variant -/A delins 4
rs1060503769
SDHD
0.925 0.160 11 112094805 stop gained G/A snv 2
rs1060503770
SDHD
0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 3
rs1060503773
SDHD
0.925 0.160 11 112094882 frameshift variant T/- delins 2
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
rs1131691065
SDHD
0.882 0.200 11 112089011 stop gained G/A snv 4