Variant (rsID / SNP)

rs144046935

rs144046935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFI1B. Location: chromosome 9, position 135,864,505. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GFI1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:135864505
Cytoband: 9q34.13
HGVS: NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp)
Allele change: Missense_R190W

Associated conditions / phenotypes

Platelet-type bleeding disorder 17

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.