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: rs200652608
rs200652608
CDT1
1 1.000 16 88807407 missense variant G/A;C snv 6.8E-05; 4.0E-06 0.800 1.000 2 2011 2011
dbSNP: rs387906917
rs387906917
CDT1
2 0.925 0.200 16 88807390 missense variant G/A snv 5.6E-05 5.6E-05 0.800 1.000 2 2011 2011
dbSNP: rs387906918
rs387906918
CDT1
2 0.925 0.120 16 88804027 missense variant G/A snv 7.0E-06 0.800 1.000 2 2011 2011
dbSNP: rs200672589
rs200672589
CDT1
1 1.000 16 88807362 missense variant C/T snv 1.3E-03 2.9E-04 0.700 1.000 2 2011 2011
dbSNP: rs147914553
rs147914553
CDT1
1 1.000 16 88808197 stop gained C/A;G;T snv 3.2E-05 0.700 0
dbSNP: rs587780305
rs587780305
CDT1
1 1.000 16 88805870 splice donor variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs779871947
rs779871947
CDT1
1 1.000 16 88804667 missense variant G/C snv 4.1E-06 0.700 0