Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499764
rs1060499764
22 38120861 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0
dbSNP: rs147455037
rs147455037
22 38113560 missense variant C/T snv 8.0E-06; 4.8E-05 9.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0
dbSNP: rs761815070
rs761815070
1.000 0.040 22 38129453 splice donor variant C/A;T snv 1.2E-05; 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0