Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864321641
VHL
1.000 0.040 3 10149802 missense variant A/T snv 1
rs869025616
VHL
0.925 0.160 3 10142040 missense variant T/C;G snv 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121908817
CIAO1 ; TMEM127
0.925 0.040 2 96265232 frameshift variant -/T delins 2
rs121908164
KIF1B ; LOC105376725
1.000 0.040 1 10365476 missense variant G/A snv 4.0E-06 7.0E-06 2
rs377767406
RET
0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 2
rs75873440
RET
0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 2
rs1060503769
SDHD
0.925 0.160 11 112094805 stop gained G/A snv 2
rs1060503773
SDHD
0.925 0.160 11 112094882 frameshift variant T/- delins 2
rs121908822
TMEM127
0.925 0.080 2 96254974 frameshift variant TCTG/- delins 2
rs121908814
TMEM127 ; CIAO1
0.925 0.040 2 96265379 start lost C/A;T snv 2
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 2
rs1553619948
VHL
0.882 0.200 3 10146528 missense variant T/C snv 2
rs5030827
VHL
0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 2
rs5030833
VHL
0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 2
rs864321642
VHL
0.925 0.160 3 10149832 missense variant T/A;C snv 2
rs864321643
VHL
0.925 0.160 3 10142140 missense variant A/C;G snv 2
rs869025648
VHL
0.851 0.240 3 10146587 synonymous variant A/G snv 2
rs199822819
FH
0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 3
rs387906649
MAX
0.925 0.040 14 65102339 start lost T/C snv 3
rs146646971
RET
0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 3
rs1060503752
SDHB
0.925 0.080 1 17023994 frameshift variant CA/- del 3
rs1060503753
SDHB
0.925 0.080 1 17027790 stop gained T/A snv 3
rs1060503759
SDHB
0.925 0.080 1 17024013 stop gained C/T snv 3
rs1060503762
SDHB
0.925 0.080 1 17044820 stop gained C/T snv 3