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rs863223313

From SNPedia

ClinVar
Risk rs863223313(GAGGGTGCC;GAGGGTGCC)
Alt rs863223313(GAGGGTGCC;GAGGGTGCC)
Reference rs863223313(;)
Significance Pathogenic
Disease Multiple pterygium syndrome Escobar type
Variation info
Gene CHRNG
CLNDBN Multiple pterygium syndrome Escobar type
Reversed 0
HGVS NC_000002.11:g.233405372_233405380dupAGGGTGCCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000020005.29,