Variant (rsID / SNP)

rs9536062

rs9536062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THSD1. Location: chromosome 13, position 52,971,718. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

THSD1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:52971718
Cytoband: 13q14.3
HGVS: NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)
Allele change: Missense_R224G

Associated conditions / phenotypes

Non-immune hydrops fetalis

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.