Source: ALL
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: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 0
dbSNP: rs869025624
rs869025624
VHL
1 1.000 0.120 3 10142139 stop gained -/A delins 0.700 0
dbSNP: rs869025641
rs869025641
VHL
1 1.000 0.120 3 10146525 frameshift variant -/A ins 0.700 0
dbSNP: rs869025666
rs869025666
VHL
1 1.000 0.120 3 10149906 frameshift variant -/AAGA delins 0.700 0
dbSNP: rs886041345
rs886041345
VHL
1 1.000 0.120 3 10142008 frameshift variant -/AGGCCGGG delins 0.700 0
dbSNP: rs1559428051
rs1559428051
VHL
1 1.000 0.120 3 10146517 frameshift variant -/C delins 0.700 0
dbSNP: rs869025625
rs869025625
VHL
1 1.000 0.120 3 10142140 frameshift variant -/C delins 0.700 0
dbSNP: rs1559426145
rs1559426145
VHL
1 1.000 0.120 3 10142150 frameshift variant -/CC delins 0.700 0
dbSNP: rs1559428128
rs1559428128
VHL
1 1.000 0.120 3 10146565 frameshift variant -/CC delins 0.700 0
dbSNP: rs1553619402
rs1553619402
VHL
1 1.000 0.120 3 10142035 frameshift variant -/G delins 0.700 0
dbSNP: rs1553619415
rs1553619415
VHL
1 1.000 0.120 3 10142052 frameshift variant -/G delins 0.700 0
dbSNP: rs1559428232
rs1559428232
VHL
1 1.000 0.120 3 10146617 frameshift variant -/G delins 0.700 0
dbSNP: rs869025626
rs869025626
VHL
1 1.000 0.120 3 10142146 frameshift variant -/G delins 0.700 0
dbSNP: rs869025628
rs869025628
VHL
1 1.000 0.120 3 10142155 frameshift variant -/T delins 0.700 0
dbSNP: rs869025661
rs869025661
VHL
1 1.000 0.120 3 10149793 frameshift variant -/T delins 0.700 0
dbSNP: rs1553619923
rs1553619923
VHL
1 1.000 0.120 3 10146488 coding sequence variant -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA delins 0.700 0
dbSNP: rs398123483
rs398123483
VHL
2 0.925 0.160 3 10149824 frameshift variant -/TTGTCCGT ins 4.0E-06 0.700 1.000 2 1993 1995
dbSNP: rs1553619952
rs1553619952
VHL
1 1.000 0.120 3 10146550 frameshift variant A/- del 0.700 0
dbSNP: rs1559425925
rs1559425925
VHL
1 1.000 0.120 3 10142079 frameshift variant A/- delins 0.700 0
dbSNP: rs1559428134
rs1559428134
VHL
1 1.000 0.120 3 10146568 frameshift variant A/- delins 0.700 0
dbSNP: rs1559428267
rs1559428267
VHL
1 1.000 0.120 3 10146635 frameshift variant A/- del 0.700 0
dbSNP: rs1559429711
rs1559429711
VHL
1 1.000 0.120 3 10149849 frameshift variant A/- del 0.700 0
dbSNP: rs794727253
rs794727253
VHL
2 0.925 0.160 3 10146621 frameshift variant A/- delins 0.700 0
dbSNP: rs869025623
rs869025623
VHL
1 1.000 0.120 3 10142115 frameshift variant A/- delins 0.700 0
dbSNP: rs869025646
rs869025646
VHL
1 1.000 0.120 3 10146574 frameshift variant A/- delins 0.700 0