CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Reflex, Ankle, Absent ×
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: rs1555420508
rs1555420508 		15 42387891 splice region variant G/A snv
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs80338800
rs80338800 		0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0