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rs797044459

From SNPedia

ClinVar
Risk rs797044459(C;C)
Alt rs797044459(C;C)
Reference rs797044459(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A2
CLNDBN Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Reversed 0
HGVS NC_000007.13:g.94033881dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018821.28,