Variant (rsID / SNP)

rs5443

rs5443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB3. Location: chromosome 12, position 6,954,875. Clinical significance in the table: Benign.

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Reference-table entries

GNB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:6954875
Cytoband: 12p13.31
HGVS: NM_002075.4(GNB3):c.825C>T (p.Ser275_Val276=)
Allele change: Synonymous_S274S

Associated conditions / phenotypes

Congenital stationary night blindness 1H|Hypertension, essential, susceptibility to|GNB3 POLYMORPHISM

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.