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C9orf72

From SNPedia

is agene
is mentioned by
Full namechromosome 9 open reading frame 72
EntrezGene203228
PheGenI203228
VariationViewer203228
ClinVarC9orf72
dbSNP203228
SADR203228
HugeNav203228
wikipediaC9orf72
googleC9orf72
gopubmedC9orf72
EVSC9orf72
HEFalMpC9orf72
MyGene2C9orf72
23andMeC9orf72
UniProtQ96LT7
EnsemblENSG00000147894
OMIM614260
# SNPs1
 Max MagnitudeChromosome positionSummary
rs77435927,561,051


An abnormal expansion of a specific C9orf72 hexanucleotide repeat unit (GGGGCC) is the most common genetic variant associated with both familial and sporadic ALS. [PMID 21944779],[PMID 21944778]

This repeat is not represented by a SNP, and, is not currently represented in SNPedia.