CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Disease: Familial (FPAH) ×
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: rs4434401
rs4434401 		0.925 0.040 5 96703321 intron variant T/C snv 0.45
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013