UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE ×
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: rs397515634
rs397515634 		0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2013 2017
dbSNP: rs768996179
rs768996179 		1.000 4 41264109 missense variant G/A snv 5.2E-05
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2013 2017
dbSNP: rs1057519600
rs1057519600 		1.000 4 41268048 missense variant C/A snv
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1554004931
rs1554004931 		1.000 4 41261925 splice donor variant T/C snv
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.700 0