rs587777570, KIF5C

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
2 1.000 2 148947018 missense variant G/A snv 0.800 1.000 5 2012 2017
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
Deformity
CUI: C0302142
Disease: Deformity
26 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014