Variant (rsID / SNP)

rs6694170

rs6694170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHL3. Location: chromosome 1, position 24,690,676. Clinical significance in the table: Benign.

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Reference-table entries

GRHL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:24690676
Cytoband: 1p36.11
HGVS: NM_001199013.2(STPG1):c.738-3145C>T
Allele change: Missense_E566K

Associated conditions / phenotypes

Van der Woude syndrome 2

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.