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: rs121917755
rs121917755
SDHB
1 1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06 0.800 1.000 10 2001 2014
dbSNP: rs74315371
rs74315371
SDHB
1 1.000 0.040 1 17028721 missense variant C/T snv 0.800 1.000 10 2001 2014
dbSNP: rs201743423
rs201743423
MAX
1 1.000 0.040 14 65102315 missense variant C/A snv 8.9E-05 7.0E-05 0.700 1.000 6 2011 2015
dbSNP: rs121908827
rs121908827
TMEM127
1 1.000 0.040 2 96254107 missense variant A/G snv 0.800 1.000 5 2010 2014
dbSNP: rs121908828
rs121908828
TMEM127
1 1.000 0.040 2 96254106 missense variant C/A;T snv 4.0E-06 0.800 1.000 5 2010 2014
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: rs121908819
rs121908819
CIAO1 ; TMEM127
1 1.000 0.040 2 96265174 missense variant C/T snv 2.0E-04 7.2E-04 0.700 1.000 2 2010 2010
dbSNP: rs121908820
rs121908820
CIAO1 ; TMEM127
1 1.000 0.040 2 96265165 missense variant C/G snv 3.7E-05 3.5E-05 0.700 1.000 2 2010 2010
dbSNP: rs121908823
rs121908823
TMEM127
1 1.000 0.040 2 96254974 missense variant C/T snv 6.7E-04 2.6E-03 0.700 1.000 2 2010 2010
dbSNP: rs121908824
rs121908824
TMEM127
1 1.000 0.040 2 96254962 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.700 1.000 2 2010 2010
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: rs121908813
rs121908813
CIAO1 ; TMEM127
1 1.000 0.040 2 96265399 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs121908815
rs121908815
CIAO1 ; TMEM127
1 1.000 0.040 2 96265306 stop gained G/A snv 0.700 0
dbSNP: rs121908825
rs121908825
TMEM127
1 1.000 0.040 2 96254832 splice donor variant C/A snv 0.700 0
dbSNP: rs121908829
rs121908829
TMEM127
1 1.000 0.040 2 96254078 stop gained C/T snv 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: rs864321636
rs864321636
SDHB
1 1.000 0.040 1 17028685 missense variant C/G snv 0.700 0
dbSNP: rs864321637
rs864321637
SDHB
1 1.000 0.040 1 17033095 missense variant T/G snv 0.700 0
dbSNP: rs864321638
rs864321638
SDHB
1 1.000 0.040 1 17033119 stop gained A/C snv 0.700 0
dbSNP: rs864321639
rs864321639
SDHB
1 1.000 0.040 1 17044822 inframe deletion ATCGATAGA/- del 0.700 0
dbSNP: rs864321640
rs864321640
VHL
1 1.000 0.040 3 10149908 frameshift variant -/A delins 0.700 0
dbSNP: rs864321641
rs864321641
VHL
1 1.000 0.040 3 10149802 missense variant A/T snv 0.700 0
dbSNP: rs864321644
rs864321644
SDHD
1 1.000 0.040 11 112094873 frameshift variant T/- delins 0.700 0
dbSNP: rs876659329
rs876659329
SDHB
2 1.000 0.040 1 17044767 missense variant A/G;T snv 0.700 1.000 10 2001 2014
dbSNP: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 3 2013 2014