Variant (rsID / SNP)
rs5442
rs5442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB3. Location: chromosome 12, position 6,954,864. The table records no clinical significance for this variant.
Reference-table entries
GNB3Not classified
- Variant type
- missense_variant
- Chromosome / position
- 12:6954864
- HGVS
- NM_002075.4,c.814G>A,p.Gly272Ser
- Allele change
- Missense_G271S
Associated conditions / phenotypes
Pre-Eclampsia|Albinism, Oculocutaneous, Type Ii
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.