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: rs145489194
rs145489194
ASPM
2 0.925 0.120 1 197133380 stop gained G/A;C snv 1.2E-05; 1.6E-05 0.710 1.000 1 2009 2009
dbSNP: rs121434305
rs121434305
MCPH1
2 0.925 0.120 8 6409330 stop gained C/G snv 1.2E-05 0.700 0
dbSNP: rs121434311
rs121434311
CENPJ ; RNF17
3 0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs121918609
rs121918609
STIL
2 0.925 0.120 1 47251285 stop gained G/A;C snv 0.700 0
dbSNP: rs137852994
rs137852994
ASPM
2 0.925 0.120 1 197093168 stop gained G/A snv 1.6E-05 1.5E-04 0.700 0
dbSNP: rs137852995
rs137852995
ASPM
2 0.925 0.120 1 197117876 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs137852996
rs137852996
ASPM
2 0.925 0.120 1 197144049 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs137852997
rs137852997
ASPM
2 0.925 0.120 1 197103062 stop gained A/C;G snv 0.700 0
dbSNP: rs140602858
rs140602858
ASPM
2 0.925 0.120 1 197121974 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs143931757
rs143931757
ASPM
1 1.000 0.120 1 197090994 stop gained A/C;G snv 2.4E-03 0.700 0
dbSNP: rs148294838
rs148294838
ASPM
1 1.000 0.120 1 197104115 stop gained G/T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs189678019
rs189678019
ASPM
2 0.925 0.120 1 197101490 stop gained A/C;G snv 2.4E-05 0.700 0
dbSNP: rs193251130
rs193251130
ASPM
1 1.000 0.120 1 197090947 missense variant T/G snv 4.7E-03 8.4E-04 0.700 0
dbSNP: rs199422124
rs199422124
MCPH1
2 0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs199422125
rs199422125
MCPH1
3 0.925 0.120 8 6436147 frameshift variant -/A delins 0.700 0
dbSNP: rs199422126
rs199422126
CDK5RAP2
2 0.925 0.120 9 120550852 stop gained A/T snv 0.700 0
dbSNP: rs199422131
rs199422131
ASPM
1 1.000 0.120 1 197146361 frameshift variant C/- delins 0.700 0
dbSNP: rs199422133
rs199422133
ASPM
1 1.000 0.120 1 197143958 frameshift variant T/- delins 0.700 0
dbSNP: rs199422134
rs199422134
ASPM
2 0.925 0.120 1 197143675 stop gained G/A;C;T snv 4.0E-06; 1.6E-04 0.700 0
dbSNP: rs199422135
rs199422135
ASPM
2 0.925 0.120 1 197143532 frameshift variant AG/- delins 4.0E-06 0.700 0
dbSNP: rs199422136
rs199422136
ASPM
1 1.000 0.120 1 197143250 frameshift variant T/- del 0.700 0
dbSNP: rs199422137
rs199422137
ASPM
2 0.925 0.120 1 197143097 frameshift variant CT/- delins 0.700 0
dbSNP: rs199422138
rs199422138
ASPM
1 1.000 0.120 1 197143073 frameshift variant A/- del 0.700 0
dbSNP: rs199422139
rs199422139
ASPM
2 0.925 0.120 1 197142986 frameshift variant CTTGAGA/- delins 0.700 0
dbSNP: rs199422141
rs199422141
ASPM
1 1.000 0.120 1 197142886 stop gained C/A;G snv 8.0E-06 0.700 0