Variant (rsID / SNP)

rs121908118

rs121908118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT10A. Location: chromosome 2, position 219,755,026. Clinical significance in the table: Pathogenic.

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Reference-table entries

WNT10APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:219755026
Cytoband: 2q35
HGVS: NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)
Allele change: Missense_E233K

Associated conditions / phenotypes

Odonto-onycho-dermal dysplasia|Odonto-onycho-dermal dysplasia|Tooth agenesis, selective, 4

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.