CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
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: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.700 0
dbSNP: rs875989787
rs875989787 		1.000 11 65206793 stop gained C/T snv
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs875989845
rs875989845 		1.000 11 65183542 frameshift variant C/- delins
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs367610255
rs367610255 		1.000 11 65209906 missense variant C/T snv 6.0E-05 3.5E-05
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2019 2019