rs1040461
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs1040461(C;T) |
| Make rs1040461(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 57190556 |
| Gene | RAB23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1040461 |
| dbSNP (classic) | rs1040461 |
| ClinGen | rs1040461 |
| ebi | rs1040461 |
| HLI | rs1040461 |
| Exac | rs1040461 |
| Gnomad | rs1040461 |
| Varsome | rs1040461 |
| LitVar | rs1040461 |
| Map | rs1040461 |
| PheGenI | rs1040461 |
| Biobank | rs1040461 |
| 1000 genomes | rs1040461 |
| hgdp | rs1040461 |
| ensembl | rs1040461 |
| geneview | rs1040461 |
| scholar | rs1040461 |
| rs1040461 | |
| pharmgkb | rs1040461 |
| gwascentral | rs1040461 |
| openSNP | rs1040461 |
| 23andMe | rs1040461 |
| SNPshot | rs1040461 |
| SNPdbe | rs1040461 |
| MSV3d | rs1040461 |
| GWAS Ctlg | rs1040461 |
| GMAF | 0.1061 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21540310] A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1
[PMID 17503333
] RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
| ClinVar | |
|---|---|
| Risk | rs1040461(T;T) |
| Alt | rs1040461(T;T) |
| Reference | Rs1040461(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Carpenter syndrome |
| Variation | info |
| Gene | RAB23 |
| CLNDBN | Carpenter syndrome |
| Reversed | 0 |
| HGVS | NC_000006.11:g.57055354C>T |
| CLNSRC | |
| CLNACC | RCV000279277.1, |
