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rs863223290

From SNPedia

ClinVar
Risk rs863223290(;)
Alt rs863223290(;)
Reference rs863223290(CGGCG;CGGCG)
Significance Pathogenic
Disease Brachydactyly type B1 Robinow syndrome
Variation info
Gene ROR2
CLNDBN Brachydactyly type B1 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
Reversed 1
HGVS NC_000009.11:g.94488884_94488888delCGCCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007734.3, RCV000007735.3,