Variant (rsID / SNP)

rs188376581

rs188376581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,495,406. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ROR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:94495406
Cytoband: 9q22.31
HGVS: NM_004560.4(ROR2):c.935G>A (p.Arg312His)
Allele change: Missense_R312H

Associated conditions / phenotypes

Brachydactyly type B1|Autosomal recessive Robinow syndrome|Short stature

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.