Variant (rsID / SNP)

rs139868987

rs139868987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPA1L. Location: chromosome 6, position 31,778,950. Clinical significance in the table: association.

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Reference-table entries

HSPA1LAssociation

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 6:31778950
Cytoband: 6p21.33
HGVS: NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile)
Allele change: Missense_T267I

Associated conditions / phenotypes

Inflammatory bowel disease 1

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.