Variant (rsID / SNP)

rs2403254

rs2403254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDHA, HPS5. Location: chromosome 11, position 18,325,146. Clinical significance in the table: association.

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Reference-table entries

LDHAAssociation

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 11:18325146
Cytoband: 11p15.1
HGVS: NM_181507.2(HPS5):c.896+1823G>A
Allele change: Silent

Associated conditions / phenotypes

decreased blood alpha-hydroxyisovalerate levels

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.