KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: PEHO syndrome ×
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: rs387906799
rs387906799 		0.742 0.200 2 240788118 missense variant G/A snv
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368 		0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs797045164
rs797045164 		0.851 0.120 2 240785063 missense variant G/A snv
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016