Variant (rsID / SNP)
rs7946
rs7946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEMT. Location: chromosome 17, position 17,409,560. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 17:17409560
- HGVS
- NM_148172.3,c.634G>A,p.Val212Met
- Allele change
- Missense_V212M
Associated conditions / phenotypes
Non-Alcoholic Fatty Liver Disease|Fatty Liver Disease|Liver Disease|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|Neural Tube Defects|Body Mass Index Quantitative Trait Locus 14|Body Mass Index Quantitative Trait Locus 9|Body Mass Index Quantitative Trait Locus 8|Lipid Metabolism Disorder|Non-Alcoholic Steatohepatitis|Choline Deficiency Disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.