Variant (rsID / SNP)

rs148266178

rs148266178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,466,691. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GPSM2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:109466691
Cytoband: 1p13.3
HGVS: NM_013296.5(GPSM2):c.1670G>A (p.Arg557His)
Allele change: Missense_R557H

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.