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: 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
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.800 0
dbSNP: rs104894310
rs104894310
2 1.000 0.040 11 112086921 stop gained G/A snv 0.700 0
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: rs1060503752
rs1060503752
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs1060503753
rs1060503753
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503759
rs1060503759
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503764
rs1060503764
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs1060503769
rs1060503769
2 0.925 0.160 11 112094805 stop gained G/A snv 0.700 0
dbSNP: rs1060503773
rs1060503773
2 0.925 0.160 11 112094882 frameshift variant T/- delins 0.700 0
dbSNP: rs121908164
rs121908164
2 1.000 0.040 1 10365476 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908813
rs121908813
1 1.000 0.040 2 96265399 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs121908814
rs121908814
3 0.925 0.040 2 96265379 start lost C/A;T snv 0.700 0
dbSNP: rs121908815
rs121908815
1 1.000 0.040 2 96265306 stop gained G/A snv 0.700 0
dbSNP: rs121908816
rs121908816
3 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 0
dbSNP: rs121908817
rs121908817
2 0.925 0.040 2 96265232 frameshift variant -/T delins 0.700 0
dbSNP: rs121908821
rs121908821
3 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 0
dbSNP: rs121908822
rs121908822
2 0.925 0.080 2 96254974 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs121908825
rs121908825
1 1.000 0.040 2 96254832 splice donor variant C/A snv 0.700 0
dbSNP: rs121908826
rs121908826
3 0.882 0.080 2 96254117 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs121908829
rs121908829
1 1.000 0.040 2 96254078 stop gained C/T snv 0.700 0
dbSNP: rs121908830
rs121908830
3 0.925 0.040 2 96254050 stop gained G/A snv 0.700 0