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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.800 0
dbSNP: rs104893827
rs104893827
VHL
1 1.000 0.040 3 10142035 missense variant T/A;C snv 0.700 1.000 3 2013 2014
dbSNP: rs104894302
rs104894302
SDHD
5 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
dbSNP: rs104894305
rs104894305
SDHD ; TIMM8B
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
dbSNP: rs104894307
rs104894307
SDHD ; TIMM8B
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 1.000 7 2001 2012
dbSNP: rs104894308
rs104894308
SDHD ; TIMM8B
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
7 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
dbSNP: rs104894310
rs104894310
SDHD ; TIMM8B
2 1.000 0.040 11 112086921 stop gained G/A snv 0.700 0
dbSNP: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs1060503555
rs1060503555
VHL
1 1.000 0.040 3 10146613 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1060503752
rs1060503752
SDHB
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs1060503753
rs1060503753
SDHB
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503757
rs1060503757
SDHB
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs1060503759
rs1060503759
SDHB
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
SDHB
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
SDHB
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503764
rs1060503764
SDHB
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs1060503769
rs1060503769
SDHD
2 0.925 0.160 11 112094805 stop gained G/A snv 0.700 0
dbSNP: rs1060503770
rs1060503770
SDHD
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2006 2006
dbSNP: rs1060503773
rs1060503773
SDHD
2 0.925 0.160 11 112094882 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013