Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
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
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 11
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 10
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 9
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 9
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 8
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 8
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv 8
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs377767412
RET
0.790 0.240 10 43114547 synonymous variant G/A snv 7
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 7
rs587782604
SDHB
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs786201095
SDHB
0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 7
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 7
rs377767404
RET
0.742 0.160 10 43114488 missense variant T/C snv 6
rs398122805
SDHB
0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 6
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 6
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 6
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5