Source: CLINVAR

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: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 1.000 0 2011 2015
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0