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Variant (rsID / SNP)

rs75099879

SLC19A2

rs75099879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A2. Location: chromosome 1, position 169,446,404. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC19A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:169446404
Cytoband
1q24.2
HGVS
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)
Allele change
Missense_V266M

Associated conditions / phenotypes

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|Thiamine-responsive megaloblastic anemia|Monogenic diabetes

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.