KIF5C, kinesin family member 5C, 3800

N. diseases: 33; N. variants: 3
Source: ALL
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: rs587777570
rs587777570
1.000 2 148947018 missense variant G/A snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 1.000 5 2012 2017
dbSNP: rs587777035
rs587777035
1.000 2 148947019 missense variant A/T snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 1.000 4 2012 2017
dbSNP: rs1331505548
rs1331505548
0.925 0.200 2 148949891 missense variant A/G snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1331505548
rs1331505548
0.925 0.200 2 148949891 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587777570
rs587777570
1.000 2 148947018 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
1.000 2 148947018 missense variant G/A snv
CUI: C0302142
Disease: Deformity
Deformity
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
1.000 2 148947018 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014