Variant (rsID / SNP)

rs13294

rs13294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECM1. Location: chromosome 1, position 150,484,987. The table records no clinical significance for this variant.

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Reference-table entries

ECM1Not classified

Variant type: missense_variant
Chromosome / position: 1:150484987
HGVS: NM_001202858.2,c.1324G>A,p.Gly442Ser
Allele change: Missense_G415S

Associated conditions / phenotypes

Inflammatory Bowel Disease|Colitis|Ulcerative Colitis|Crohn's Disease

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.