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Variant (rsID / SNP)

rs2228314

SREBF2

rs2228314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SREBF2. Location: chromosome 22, position 42,276,742. The table records no clinical significance for this variant.

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Reference-table entries

SREBF2Not classified
Variant type
missense_variant
Chromosome / position
22:42276742
HGVS
NM_004599.4,c.1784G>C,p.Gly595Ala
Allele change
Silent

Associated conditions / phenotypes

Non-Alcoholic Fatty Liver Disease|Liver Disease|Fatty Liver Disease|Osteoarthritis|Polycystic Ovary Syndrome|Cardiac Conduction Defect|Lipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Coronary Stenosis|Ischemia|Gallbladder Disease 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.