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rs1060502250

From SNPedia

ClinVar
Risk rs1060502250(-;-)
Alt rs1060502250(-;-)
Reference Rs1060502250(CTC;CTC)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137726821_137726823delCCT
CLNSRC
CLNACC RCV000457411.1,