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rs863223288

From SNPedia

ClinVar
Risk
Alt
Reference Rs863223288(CG;CG)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 2
Variation info
Gene TNFSF11
CLNDBN Osteopetrosis autosomal recessive 2
Reversed 0
HGVS NC_000013.10:g.43180928_43180929delCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007390.3,