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: rs1060503764
rs1060503764
SDHB
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs864321640
rs864321640
VHL
1 1.000 0.040 3 10149908 frameshift variant -/A delins 0.700 0
dbSNP: rs1553176976
rs1553176976
SDHB
3 0.925 0.080 1 17018936 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1553176979
rs1553176979
SDHB
3 0.925 0.080 1 17018938 frameshift variant -/C ins 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: rs878854589
rs878854589
SDHD ; TIMM8B
3 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
dbSNP: rs1209914140
rs1209914140
SDHB
3 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs794728947
rs794728947
SDHB
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs121908817
rs121908817
CIAO1 ; TMEM127
2 0.925 0.040 2 96265232 frameshift variant -/T delins 0.700 0
dbSNP: rs121908831
rs121908831
TMEM127
1 1.000 0.040 2 96253884 frameshift variant -/TCTGAGAGCAGCTC delins 4.0E-06 0.700 0
dbSNP: rs878854572
rs878854572
SDHB
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs786201095
rs786201095
SDHB
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 12 2005 2015
dbSNP: rs1060503763
rs1060503763
SDHB
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs864321638
rs864321638
SDHB
1 1.000 0.040 1 17033119 stop gained A/C snv 0.700 0
dbSNP: rs377767430
rs377767430
RET
3 0.882 0.080 10 43120192 missense variant A/C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs876659313
rs876659313
VHL
2 0.925 0.080 3 10146624 missense variant A/C;G snv 0.010 < 0.001 1 2003 2003
dbSNP: rs864321643
rs864321643
VHL
2 0.925 0.160 3 10142140 missense variant A/C;G snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.800 1.000 7 2001 2007
dbSNP: rs121908827
rs121908827
TMEM127
1 1.000 0.040 2 96254107 missense variant A/G snv 0.800 1.000 5 2010 2014
dbSNP: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 3 2013 2014
dbSNP: rs1557739966
rs1557739966
SDHB
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015