Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878854591
SDHD
0.882 0.200 11 112088938 frameshift variant C/- delins 3
rs878854590
SDHD
0.851 0.240 11 112088869 frameshift variant G/- delins 3
rs878854589
SDHD ; TIMM8B
0.882 0.200 11 112086916 frameshift variant -/C delins 3
rs878854575
SDHB
0.882 0.080 1 17033075 stop gained T/A snv 4
rs878854574
SDHB
0.925 0.080 1 17033147 splice acceptor variant T/G snv 3
rs878854572
SDHB
0.925 0.080 1 17044835 frameshift variant A/- delins 3
rs876659329
SDHB
1.000 0.040 1 17044767 missense variant A/G;T snv 1
rs876658713
SDHB
0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 3
rs876658477
SDHD
0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06 3
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv 5
rs876658367
SDHB
0.882 0.080 1 17024028 missense variant C/T snv 3
rs869025648
VHL
0.851 0.240 3 10146587 synonymous variant A/G snv 2
rs869025616
VHL
0.925 0.160 3 10142040 missense variant T/C;G snv 1
rs864321644
SDHD
1.000 0.040 11 112094873 frameshift variant T/- delins 1
rs864321643
VHL
0.925 0.160 3 10142140 missense variant A/C;G snv 2
rs864321642
VHL
0.925 0.160 3 10149832 missense variant T/A;C snv 2
rs864321641
VHL
1.000 0.040 3 10149802 missense variant A/T snv 1
rs864321640
VHL
1.000 0.040 3 10149908 frameshift variant -/A delins 1
rs864321639
SDHB
1.000 0.040 1 17044822 inframe deletion ATCGATAGA/- del 1
rs864321638
SDHB
1.000 0.040 1 17033119 stop gained A/C snv 1
rs864321637
SDHB
1.000 0.040 1 17033095 missense variant T/G snv 1
rs864321636
SDHB
1.000 0.040 1 17028685 missense variant C/G snv 1
rs80338845
SDHD
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 5
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 7
rs80338843
TIMM8B ; SDHD
0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 5