rs672601368, KIF1A

N. diseases: 10
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
37 0.827 0.160 2 240785062 missense variant C/G;T snv 0.800 1.000 4 2011 2015
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Optic Neuropathy
CUI: C3887709
Disease: Optic Neuropathy
8 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
PEHO syndrome
CUI: C1850055
Disease: PEHO syndrome
6 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016