CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
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: rs759344521
rs759344521
1.000 0.080 5 96737892 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016