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rs869025181

From SNPedia

ClinVar
Risk rs869025181(-;-)
Alt rs869025181(-;-)
Reference rs869025181(GTCTCCCTAAGGG;GTCTCCCTAAGGG)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.133087208_133087220delCCCTTAGGGAGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012451.25,