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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs1064794037
rs1064794037
VHL
1 1.000 0.040 3 10149803 frameshift variant GATGC/- delins 0.010 1.000 1 2014 2014
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs118184842
rs118184842
RNF139
1 1.000 0.040 8 124487598 missense variant A/G snv 2.4E-04 9.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1416313401
rs1416313401
SYBU
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs704
rs704
VTN ; SARM1
4 1.000 0.040 17 28367840 missense variant G/A snv 0.51 0.51 0.010 1.000 1 2009 2009
dbSNP: rs869025667
rs869025667
VHL
6 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2014 2014