Variant (rsID / SNP)

rs6003

rs6003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F13B. Location: chromosome 1, position 197,031,021. Clinical significance in the table: Benign.

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Reference-table entries

F13BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:197031021
Cytoband: 1q31.3
HGVS: NM_001994.3(F13B):c.344G>A (p.Arg115His)
Allele change: Missense_R115H

Associated conditions / phenotypes

Venous thrombosis, susceptibility to|Factor XIII, b subunit, deficiency of

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.