PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: Fibromuscular Dysplasia ×
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: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		Cardiovascular Diseases 0.010 1.000 1 2019 2019