PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: Hypercholesterolemia, Familial ×
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: rs12526453
rs12526453 		0.827 0.160 6 12927312 intron variant C/G snv 0.27
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019