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rs1057518817

From SNPedia

ClinVar
Risk rs1057518817(-;-)
Alt rs1057518817(-;-)
Reference Rs1057518817(GTGGTCCTTTC;GTGGTCCTTTC)
Significance Probable-Pathogenic
Disease Craniosynostosis Growth delay Limb undergrowth Trident hand
Variation info
Gene NPR2
CLNDBN Craniosynostosis Growth delay Limb undergrowth Trident hand
Reversed 0
HGVS NC_000009.11:g.35805941_35805951delGTGGTCCTTTC
CLNSRC
CLNACC RCV000415200.1,