Variant (rsID / SNP)

rs196586

rs196586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EEPD1. Location: chromosome 7, position 36,320,821. The table records no clinical significance for this variant.

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Reference-table entries

EEPD1Not classified

Variant type: missense_variant
Chromosome / position: 7:36320821
HGVS: NM_030636.3,c.1028G>A,p.Ser343Asn
Allele change: Missense_S343N

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.