Variant (rsID / SNP)

rs118020901

rs118020901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZEB1. Location: chromosome 10, position 31,810,782. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZEB1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:31810782
Cytoband: 10p11.22
HGVS: NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
Allele change: Missense_Q622P

Associated conditions / phenotypes

Corneal dystrophy, Fuchs endothelial, 6

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.