Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553176979
rs1553176979
SDHB
3 0.925 0.080 1 17018938 frameshift variant -/C ins 0.700 0
dbSNP: rs1553177436
rs1553177436
SDHB
3 0.925 0.080 1 17024007 frameshift variant C/- delins 0.700 0
dbSNP: rs1553177676
rs1553177676
SDHB
3 0.925 0.080 1 17027784 stop gained G/A snv 0.700 0
dbSNP: rs1553178726
rs1553178726
SDHB
3 0.925 0.080 1 17044756 splice region variant C/G snv 0.700 0
dbSNP: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.700 0
dbSNP: rs1557738304
rs1557738304
SDHB
3 0.925 0.080 1 17018943 frameshift variant -/C delins 0.700 0
dbSNP: rs1557741425
rs1557741425
SDHB
3 0.925 0.080 1 17028623 frameshift variant -/C delins 0.700 0
dbSNP: rs1566690018
rs1566690018
SDHD ; TIMM8B
3 0.882 0.200 11 112086920 frameshift variant TG/- del 0.700 0
dbSNP: rs199822819
rs199822819
FH
3 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs35460768
rs35460768
VHL
2 0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03 0.700 0
dbSNP: rs377767412
rs377767412
RET
7 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
dbSNP: rs387906649
rs387906649
MAX
3 0.925 0.040 14 65102339 start lost T/C snv 0.700 0
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 0
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 0
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs5030833
rs5030833
VHL
3 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs587776648
rs587776648
SDHD
3 0.882 0.200 11 112094824 frameshift variant GACT/- delins 0.700 0
dbSNP: rs587781266
rs587781266
SDHB
3 0.925 0.080 1 17022654 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs587782210
rs587782210
SDHD ; TIMM8B
4 0.882 0.200 11 112087959 stop gained C/A snv 0.700 0
dbSNP: rs587782617
rs587782617
SDHB
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.700 0
dbSNP: rs74315367
rs74315367
SDHB
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs74315369
rs74315369
SDHB
6 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.800 0