rs1063739
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1063739(A;A) |
| Make rs1063739(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 144504344 |
| Gene | GPT, LOC101928953 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1063739 |
| dbSNP (classic) | rs1063739 |
| ClinGen | rs1063739 |
| ebi | rs1063739 |
| HLI | rs1063739 |
| Exac | rs1063739 |
| Gnomad | rs1063739 |
| Varsome | rs1063739 |
| LitVar | rs1063739 |
| Map | rs1063739 |
| PheGenI | rs1063739 |
| Biobank | rs1063739 |
| 1000 genomes | rs1063739 |
| hgdp | rs1063739 |
| ensembl | rs1063739 |
| geneview | rs1063739 |
| scholar | rs1063739 |
| rs1063739 | |
| pharmgkb | rs1063739 |
| gwascentral | rs1063739 |
| openSNP | rs1063739 |
| 23andMe | rs1063739 |
| SNPshot | rs1063739 |
| SNPdbe | rs1063739 |
| MSV3d | rs1063739 |
| GWAS Ctlg | rs1063739 |
| GMAF | 0.4155 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1063739(A;A) rs1063739(G;G) |
| Alt | rs1063739(A;A) rs1063739(G;G) |
| Reference | Rs1063739(C;C) |
| Significance | Non-pathogenic |
| Disease | GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM |
| Variation | info |
| Gene | GPT |
| CLNDBN | GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM |
| Reversed | 0 |
| HGVS | NC_000008.10:g.145729727C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017468.2, |
[PMID 17249369] [SNP pentaplex--the allele frequency database of central Poland population].
[PMID 18767499] [The central Poland population database of 500 SNP alleles].
[PMID 20073261] [The usefulness of SNP markers for analyses of highly degraded biological materials].
