Variant (rsID / SNP)

rs143070599

rs143070599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIAE. Location: chromosome 11, position 124,519,650. 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: 11:124519650
Cytoband: 11q24.2
HGVS: NM_170601.5(SIAE):c.587G>T (p.Cys196Phe)
Allele change: Missense_C196F

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.