Variant (rsID / SNP)

rs678

rs678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITIH1. Location: chromosome 3, position 52,820,981. Clinical significance in the table: Benign.

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Reference-table entries

ITIH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:52820981
Cytoband: 3p21.1
HGVS: NM_002215.4(ITIH1):c.1754A>T (p.Glu585Val)
Allele change: Missense_E585V

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.