Have questions? Visit https://www.reddit.com/r/SNPedia

rs786200942

From SNPedia

ClinVar
Risk rs786200942(;)
Alt rs786200942(;)
Reference rs786200942(TGGCCAGCA;TGGCCAGCA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene B3GALT6 SDF4
CLNDBN Ehlers-Danlos syndrome, progeroid type, 2
Reversed 1
HGVS NC_000001.10:g.1168073_1168081delATGCTGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054400.4,