Variant (rsID / SNP)

rs148199056

rs148199056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 4,117,942. 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: 9:4117942
Cytoband: 9p24.2
HGVS: NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu)
Allele change: Missense_D512E

Associated conditions / phenotypes

Neonatal diabetes mellitus with congenital hypothyroidism|Monogenic diabetes|Diabetes mellitus

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.