Variant (rsID / SNP)

rs1800000

rs1800000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP1R3A. Location: chromosome 7, position 113,518,498. Clinical significance in the table: Benign.

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Reference-table entries

PPP1R3ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:113518498
Cytoband: 7q31.1
HGVS: NM_002711.4(PPP1R3A):c.2649G>T (p.Arg883Ser)
Allele change: Missense_R883S

Associated conditions / phenotypes

Monogenic diabetes

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.