Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145489194
rs145489194
ASPM
0.925 0.120 1 197133380 stop gained G/A;C snv 1.2E-05; 1.6E-05
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.710 1.000 1 2009 2009
dbSNP: rs1290730334
rs1290730334
ASPM
1.000 0.120 1 197101708 stop gained G/A snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.010 1.000 1 2018 2018
dbSNP: rs532354124
rs532354124
ASPM
1.000 0.080 1 197103274 missense variant T/C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2013 2013
dbSNP: rs769364943
rs769364943
ASPM
1.000 0.240 1 197101927 stop gained G/A;C snv 8.0E-06 7.0E-06
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.010 1.000 1 2018 2018