Variant (rsID / SNP)

rs149883454

rs149883454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIMS1. Location: chromosome 6, position 72,962,456. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RIMS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:72962456
Cytoband: 6q13
HGVS: NM_014989.7(RIMS1):c.2699-8T>C
Allele change: Silent

Associated conditions / phenotypes

Cone-rod dystrophy 7

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.