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: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.900 0.941 237 2005 2018
dbSNP: rs1057519753
rs1057519753
4 0.846 0.107 1 64846664 missense variant C/A snp 0.700 1 2006 2006
dbSNP: rs10815148
rs10815148
3 0.878 0.071 9 5057284 intron variant T/A snp 0.33 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
3 0.878 0.071 9 5072846 intron variant G/A snp 0.24 0.010 1.000 1 2008 2008
dbSNP: rs11999802
rs11999802
1 1.000 0.071 9 5189773 intergenic variant T/G snp 0.34 0.010 1.000 1 2012 2012
dbSNP: rs121912473
rs121912473
3 0.923 0.071 9 5070026 missense variant AA/TT multinucleotide-polymorphism 0.010 1.000 1 2013 2013
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.010 1.000 1 2010 2010
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs12342421
rs12342421
3 0.878 0.071 9 5065750 intron variant G/C snp 0.24 0.010 1.000 1 2008 2008
dbSNP: rs17849241
rs17849241
3 0.923 0.071 17 78358688 missense variant G/C,T snp 4.1E-06; 2.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs200104203
rs200104203
3 0.878 0.071 21 34792580 missense variant G/A,C snp 1.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.010 1.000 1 2016 2016
dbSNP: rs318699
rs318699
3 0.878 0.071 19 11390564 intron variant A/G snp 0.72 0.010 1.000 1 2008 2008
dbSNP: rs3808850
rs3808850
2 0.923 0.071 9 4983311 intergenic variant T/A,C snp 0.29 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2014 2014
dbSNP: rs562533120
rs562533120
2 0.923 0.071 6 134966397 missense variant A/C snp 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7046736
rs7046736
2 0.923 0.071 9 5015732 intron variant C/A snp 0.39 0.010 1.000 1 2008 2008
dbSNP: rs754190776
rs754190776
2 0.923 0.071 11 5253350 G/A snp 8.0E-06 0.010 1.000 1 1989 1989
dbSNP: rs772889171
rs772889171
3 0.878 0.071 21 34834487 missense variant G/A snp 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828
4 0.846 0.143 12 54293083 missense variant G/A snp 2.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs780178275
rs780178275
VHL
4 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs9376092
rs9376092
9 0.878 0.107 6 135106006 intergenic variant C/A snp 0.26 0.010 1.000 1 2016 2016