Variant (rsID / SNP)

rs2293012

rs2293012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIH1D1. Location: chromosome 19, position 49,954,807. The table records no clinical significance for this variant.

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Reference-table entries

PIH1D1Not classified

Variant type: missense_variant
Chromosome / position: 19:49954807
HGVS: NM_017916.3,c.25A>C,p.Met9Leu
Allele change: Missense_M9L

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.