KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
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: rs6881888
rs6881888 		1.000 0.040 5 62534612 intron variant C/T snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6895112
rs6895112 		1.000 0.040 5 62524467 intron variant A/G snv 7.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7722692
rs7722692 		1.000 0.040 5 62535151 intron variant G/A snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9291762
rs9291762 		1.000 0.040 5 62536910 intron variant G/C snv 9.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1554042050
rs1554042050 		1.000 5 62361328 missense variant C/T snv
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1858091
Disease: Long fingers
Long fingers 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0266483
Disease: Pachygyria
Pachygyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C3150613
Disease: Long toe
Long toe 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4021167
Disease: Tapered toe
Tapered toe 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4023477
Disease: EEG with focal spike waves
EEG with focal spike waves 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0