Variant (rsID / SNP)
rs8192678
rs8192678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPARGC1A. Location: chromosome 4, position 23,815,662. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 4:23815662
- HGVS
- NM_001330751.2,c.1459G>A,p.Gly487Ser
- Allele change
- Silent
Associated conditions / phenotypes
Type 2 Diabetes Mellitus|Diabetes Mellitus|Non-Alcoholic Fatty Liver Disease|Fatty Liver Disease|Liver Disease|Non-Alcoholic Steatohepatitis|Multiple Sclerosis|Lipid Metabolism Disorder|Secondary Progressive Multiple Sclerosis|Body Mass Index Quantitative Trait Locus 11|Body Mass Index Quantitative Trait Locus 18|Body Mass Index Quantitative Trait Locus 19|Body Mass Index Quantitative Trait Locus 10|Body Mass Index Quantitative Trait Locus 7|Body Mass Index Quantitative Trait Locus 4|Body Mass Index Quantitative Trait Locus 12|Body Mass Index Quantitative Trait Locus 14|Body Mass Index Quantitative Trait Locus 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.