Variant (rsID / SNP)

rs116262672

rs116262672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA6. Location: chromosome 18, position 19,751,148. Clinical significance in the table: Benign.

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Reference-table entries

GATA6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:19751148
Cytoband: 18q11.2
HGVS: NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)
Allele change: Missense_G15R

Associated conditions / phenotypes

Monogenic diabetes|Atrioventricular septal defect 5

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.