Variant (rsID / SNP)

rs144510878

rs144510878 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIAE. Location: chromosome 11, position 124,517,292. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SIAEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:124517292
Cytoband: 11q24.2
HGVS: NM_170601.5(SIAE):c.935C>T (p.Thr312Met)
Allele change: Missense_T312M

Associated conditions / phenotypes

Autoimmune disease, susceptibility to, 6

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.