Variant (rsID / SNP)

rs235768

rs235768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP2. Location: chromosome 20, position 6,759,115. Clinical significance in the table: Benign.

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Reference-table entries

BMP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:6759115
Cytoband: 20p12.3
HGVS: NM_001200.4(BMP2):c.570A>T (p.Arg190Ser)
Allele change: Missense_R190S

Associated conditions / phenotypes

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

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.