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Variant (rsID / SNP)

rs6499548

CHD9

rs6499548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD9. Location: chromosome 16, position 53,341,748. The table records no clinical significance for this variant.

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Reference-table entries

CHD9Not classified
Variant type
missense_variant
Chromosome / position
16:53341748
HGVS
NM_001308319.2,c.6936T>G,p.Asp2312Glu
Allele change
Missense_D2312E

Associated conditions / phenotypes

Missense_D1806E

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.