Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv 8
rs377767412
RET
0.790 0.240 10 43114547 synonymous variant G/A snv 7
rs377767404
RET
0.742 0.160 10 43114488 missense variant T/C snv 6
rs104894304
SDHD
0.827 0.240 11 112094831 missense variant A/G 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
rs1555187083
SDHD
0.851 0.240 11 112089012 splice donor variant G/A;T snv 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
rs587776649
TIMM8B ; SDHD
0.851 0.240 11 112087861 frameshift variant G/- del 5
rs587781270
SDHB
0.882 0.080 1 17033058 splice donor variant A/T snv 5
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
rs80338842
TIMM8B ; SDHD
0.790 0.280 11 112086910 start lost G/A;C snv 5
rs80338845
SDHD
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 5
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv 5
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
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
rs104894308
TIMM8B ; SDHD
0.882 0.200 11 112087933 stop gained G/A snv 4
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
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