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: rs1553315329
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		0.700 0
dbSNP: rs1553315329
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		0.700 0
dbSNP: rs1553315329
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0