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rs797045488

From SNPedia

ClinVar
Risk rs797045488(AA;AA)
Alt rs797045488(AA;AA)
Reference rs797045488(TGCAAGGAG;TGCAAGGAG)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3817886_3817894delCTCCTTGCAinsTT
CLNSRC
CLNACC RCV000194630.1,