Have questions? Visit https://www.reddit.com/r/SNPedia

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,