Source: CURATED ×
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: rs75996173
rs75996173
RET
10 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.850 1.000 3 2002 2014
dbSNP: rs77724903
rs77724903
RET
11 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.830 0.667 0 2010 2015
dbSNP: rs75076352
rs75076352
RET
10 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.820 1.000 3 2005 2014
dbSNP: rs5030824
rs5030824
VHL
5 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.810 1.000 0 2002 2002
dbSNP: rs138996609
rs138996609
SDHB
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 19 2001 2015
dbSNP: rs74315370
rs74315370
SDHB
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.800 1.000 17 2001 2017
dbSNP: rs74315368
rs74315368
SDHB
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 15 2001 2015
dbSNP: rs80338844
rs80338844
SDHD
8 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 13 2000 2015
dbSNP: rs772551056
rs772551056
SDHB
6 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.800 1.000 11 2003 2016
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: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.800 1.000 7 2001 2007
dbSNP: rs80338845
rs80338845
SDHD
6 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.800 1.000 6 2010 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: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.800 1.000 3 2013 2014
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 3 2013 2014
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.800 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: rs77709286
rs77709286
RET
9 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.800 0
dbSNP: rs74799832
rs74799832
RET
18 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.740 1.000 0 1997 2019
dbSNP: rs76262710
rs76262710
RET
11 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.720 1.000 0 1997 2005
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
3 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.710 1.000 1 1997 1997
dbSNP: rs1060503770
rs1060503770
SDHD
3 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.710 1.000 0 2006 2006
dbSNP: rs5030805
rs5030805
VHL
2 0.790 0.280 3 10142086 missense variant G/A;T snv 0.710 < 0.001 0 2008 2008