Variant (rsID / SNP)

rs1058396

rs1058396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC14A1. Location: chromosome 18, position 43,319,519. Clinical significance in the table: Benign.

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Reference-table entries

SLC14A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:43319519
Cytoband: 18q12.3
HGVS: NM_015865.7(SLC14A1):c.838G>A (p.Asp280Asn)
Allele change: Missense_D175N

Associated conditions / phenotypes

KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)

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.