Variant (rsID / SNP)

rs7853989

rs7853989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABO. Location: chromosome 9, position 136,131,592. The table records no clinical significance for this variant.

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Reference-table entries

ABONot classified

Variant type: missense_variant
Chromosome / position: 9:136131592
HGVS: NM_020469.3,c.523C>G,p.Arg175Gly
Allele change: Missense_C175W

Associated conditions / phenotypes

Thrombophilia Due to Thrombin Defect|Factor Viii Deficiency|Hemophilia a|Hemophilia

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.