| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 248477 | single nucleotide variant | NM_006578.3(GNB5):c.242C>T (p.Ser81Leu) | 761399728 | Human Phenotype Ontology:HP:0007018,MedGen:CN006126;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;MedGen:CN239053,OMIM:617182 | 15 | 52446144 | 52446144 | G | A |
| 248477 | single nucleotide variant | NM_006578.3(GNB5):c.242C>T (p.Ser81Leu) | 761399728 | Human Phenotype Ontology:HP:0007018,MedGen:CN006126;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;MedGen:CN239053,OMIM:617182 | 15 | 52153947 | 52153947 | G | A |
| 263624 | single nucleotide variant | NM_006578.3(GNB5):c.249G>A (p.Gln83=) | 886041054 | MedGen:CN239052,OMIM:617173 | 15 | 52446137 | 52446137 | C | T |
| 263624 | single nucleotide variant | NM_006578.3(GNB5):c.249G>A (p.Gln83=) | 886041054 | MedGen:CN239052,OMIM:617173 | 15 | 52153940 | 52153940 | C | T |
| 263625 | single nucleotide variant | NM_006578.3(GNB5):c.994C>T (p.Arg332Ter) | 773902879 | MedGen:CN239052,OMIM:617173 | 15 | 52124529 | 52124529 | G | A |
| 263625 | single nucleotide variant | NM_006578.3(GNB5):c.994C>T (p.Arg332Ter) | 773902879 | MedGen:CN239052,OMIM:617173 | 15 | 52416726 | 52416726 | G | A |
| 263626 | single nucleotide variant | NM_006578.3(GNB5):c.249+1G>T | 886041055 | MedGen:CN239052,OMIM:617173 | 15 | 52446136 | 52446136 | C | A |
| 263626 | single nucleotide variant | NM_006578.3(GNB5):c.249+1G>T | 886041055 | MedGen:CN239052,OMIM:617173 | 15 | 52153939 | 52153939 | C | A |
| 263627 | single nucleotide variant | NM_006578.3(GNB5):c.249+3A>G | 766004901 | MedGen:CN239052,OMIM:617173 | 15 | 52446134 | 52446134 | T | C |
| 263627 | single nucleotide variant | NM_006578.3(GNB5):c.249+3A>G | 766004901 | MedGen:CN239052,OMIM:617173 | 15 | 52153937 | 52153937 | T | C |
| 263628 | single nucleotide variant | NM_006578.3(GNB5):c.906C>G (p.Tyr302Ter) | 749597091 | MedGen:CN239052,OMIM:617173 | 15 | 52416814 | 52416814 | G | C |
| 263628 | single nucleotide variant | NM_006578.3(GNB5):c.906C>G (p.Tyr302Ter) | 749597091 | MedGen:CN239052,OMIM:617173 | 15 | 52124617 | 52124617 | G | C |