Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
rs74315369
SDHB
0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 5
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 3
rs75873440
RET
0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 2
rs377767406
RET
0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 2
rs146646971
RET
0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 3
rs199822819
FH
0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 3
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 7
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 5
rs74315370
SDHB
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 5
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 9
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 7
rs587782243
SDHB
0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 5
rs398122805
SDHB
0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 6
rs267607032
SDHB
0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 5
rs74315368
SDHB
0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 5
rs786201095
SDHB
0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 7
rs121908821
TMEM127
0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 3
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 8
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 6