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rs797044451

From SNPedia

ClinVar
Risk rs797044451(;)
Alt rs797044451(;)
Reference rs797044451(CT;CT)
Significance Pathogenic
Disease Capillary malformation-arteriovenous malformation Parkes Weber syndrome not provided
Variation info
Gene RASA1
CLNDBN Capillary malformation-arteriovenous malformation Parkes Weber syndrome not provided
Reversed 0
HGVS NC_000005.9:g.86564743_86564744delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000017370.28, RCV000017371.24, RCV000200157.1,