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: rs143141689
rs143141689
ORC1
3 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.800 1.000 6 2011 2015
dbSNP: rs201253919
rs201253919
ORC1
1 1.000 0.200 1 52383437 missense variant G/A snv 4.8E-05 9.8E-05 0.800 1.000 3 2011 2011
dbSNP: rs387906826
rs387906826
ORC1
1 1.000 0.200 1 52397707 missense variant T/C snv 7.0E-06 0.800 1.000 3 2011 2011
dbSNP: rs387906827
rs387906827
ORC1
1 1.000 0.200 1 52397821 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 3 2011 2011
dbSNP: rs387906828
rs387906828
ORC1
1 1.000 0.200 1 52375574 missense variant C/T snv 4.8E-05 2.1E-05 0.800 1.000 3 2011 2011
dbSNP: rs1378348220
rs1378348220
ORC1
1 1.000 0.200 1 52385264 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1557573504
rs1557573504
ORC1
1 1.000 0.200 1 52383433 frameshift variant AC/T delins 0.700 0