Variant (rsID / SNP)

rs76094493

rs76094493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 3,828,379. Clinical significance in the table: Benign.

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Reference-table entries

GLIS3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:3828379
Cytoband: 9p24.2
HGVS: NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe)
Allele change: Missense_L896F

Associated conditions / phenotypes

Neonatal diabetes mellitus with congenital hypothyroidism|Monogenic diabetes

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.