Variant (rsID / SNP)
rs78994946
rs78994946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFAP. Location: chromosome 17, position 42,987,512. Clinical significance in the table: Benign.
Reference-table entries
GFAPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:42987512
- Cytoband
- 17q21.31
- HGVS
- NM_002055.5(GFAP):c.1171+471C>T
- Allele change
- Missense_R430C
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.