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: rs587776508
rs587776508
CDK2AP1 ; C12orf65
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs397514539
rs397514539
CDK2AP1 ; C12orf65
1 1.000 12 123256924 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs398122365
rs398122365
CDK2AP1 ; C12orf65
1 1.000 12 123256945 stop gained C/T snv 0.700 0
dbSNP: rs398122972
rs398122972
CDK2AP1 ; C12orf65
2 0.925 0.120 12 123256876 frameshift variant G/- del 0.700 0
dbSNP: rs587777667
rs587777667
CDK2AP1 ; C12orf65
1 1.000 12 123256941 frameshift variant AACAA/- delins 0.700 0
dbSNP: rs587777668
rs587777668
CDK2AP1 ; C12orf65
1 1.000 12 123253958 splice donor variant T/A snv 0.700 0