rs2001030
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 0 | common on affy axiom data |
| Make rs2001030(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 1438 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2001030 |
| dbSNP (classic) | rs2001030 |
| ClinGen | rs2001030 |
| ebi | rs2001030 |
| HLI | rs2001030 |
| Exac | rs2001030 |
| Gnomad | rs2001030 |
| Varsome | rs2001030 |
| LitVar | rs2001030 |
| Map | rs2001030 |
| PheGenI | rs2001030 |
| Biobank | rs2001030 |
| 1000 genomes | rs2001030 |
| hgdp | rs2001030 |
| ensembl | rs2001030 |
| geneview | rs2001030 |
| scholar | rs2001030 |
| rs2001030 | |
| pharmgkb | rs2001030 |
| gwascentral | rs2001030 |
| openSNP | rs2001030 |
| 23andMe | rs2001030 |
| SNPshot | rs2001030 |
| SNPdbe | rs2001030 |
| MSV3d | rs2001030 |
| GWAS Ctlg | rs2001030 |
| GMAF | 0.04397 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| Haplogroup SNP | |
|---|---|
| Alt. Name(s) | G1438A |
| Source(s) | [PMID 17099056] |
| Tree | PhyloTree build 7 |
| Clade Haplogroup |
No Clade Haplogroup |
| Ancestral Haplogroup |
Haplogroup H (mtDNA) |
| Derived Haplogroup |
Haplogroup H2 (mtDNA) |
| Ancestral Allele | G |
| Derived Allele | A |
| ClinVar | |
|---|---|
| Risk | Rs2001030(G;G) |
| Alt | Rs2001030(G;G) |
| Reference | Rs2001030(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_012920.1:m.1438A\x3d; NC_012920.1:m.1438A>G |
| CLNSRC | |
| CLNACC | RCV000154311.1, RCV000035045.2, |
