Variant (rsID / SNP)

rs78242949

rs78242949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC14A1. Location: chromosome 18, position 43,319,552. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC14A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:43319552
Cytoband: 18q12.3
HGVS: NM_015865.7(SLC14A1):c.871T>C (p.Ser291Pro)
Allele change: Missense_S186P

Associated conditions / phenotypes

Jk-null variant, finnish type

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.