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: rs387906982
rs387906982
WDR19
1 1.000 4 39185739 missense variant T/C snv 0.800 1.000 1 2011 2011
dbSNP: rs79436363
rs79436363
WDR19
3 0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04 0.700 1.000 4 2013 2017
dbSNP: rs780847651
rs780847651
WDR19
2 0.925 4 39228692 splice donor variant T/C snv 2.2E-05 7.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs1553907440
rs1553907440
WDR19
2 0.925 4 39215958 frameshift variant G/- delins 0.700 0
dbSNP: rs387906980
rs387906980
WDR19
6 0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05 0.700 0