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: rs1555177629
rs1555177629
KIF5A
0.925 0.120 12 57567514 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 4 2009 2015
dbSNP: rs121434443
rs121434443
KIF5A
0.925 0.120 12 57569263 missense variant A/G snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 0
dbSNP: rs387907285
rs387907285
KIF5A
0.925 0.120 12 57568999 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 0
dbSNP: rs387907287
rs387907287
KIF5A
0.925 0.120 12 57567515 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 0