Variant (rsID / SNP)

rs116514023

rs116514023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,296,609. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MKS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:56296609
Cytoband: 17q22
HGVS: NM_017777.4(MKS1):c.-18C>G
Allele change: Silent

Associated conditions / phenotypes

Meckel syndrome, type 1|Bardet-Biedl syndrome 13

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.