Variant (rsID / SNP)

rs1800469

rs1800469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B9D2, TGFB1. Location: chromosome 19, position 41,860,296. Clinical significance in the table: Benign.

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Reference-table entries

B9D2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:41860296
Cytoband: 19q13.2
HGVS: NM_000660.6(TGFB1):c.-1347T>C

Associated conditions / phenotypes

Meckel-Gruber syndrome|Joubert syndrome

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.