Variant (rsID / SNP)

rs2076740

rs2076740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,984,058. Clinical significance in the table: Benign.

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Reference-table entries

TGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:133984058
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.5995C>T (p.Arg1999Trp)
Allele change: Missense_R1999W

Associated conditions / phenotypes

Autoimmune thyroid disease, susceptibility to, 3|Iodotyrosyl coupling defect

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.