rs28932177
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs28932177(A;A) |
| Make rs28932177(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 5 |
| Position | 177210470 |
| Gene | NSD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28932177 |
| dbSNP (classic) | rs28932177 |
| ClinGen | rs28932177 |
| ebi | rs28932177 |
| HLI | rs28932177 |
| Exac | rs28932177 |
| Gnomad | rs28932177 |
| Varsome | rs28932177 |
| LitVar | rs28932177 |
| Map | rs28932177 |
| PheGenI | rs28932177 |
| Biobank | rs28932177 |
| 1000 genomes | rs28932177 |
| hgdp | rs28932177 |
| ensembl | rs28932177 |
| geneview | rs28932177 |
| scholar | rs28932177 |
| rs28932177 | |
| pharmgkb | rs28932177 |
| gwascentral | rs28932177 |
| openSNP | rs28932177 |
| 23andMe | rs28932177 |
| SNPshot | rs28932177 |
| SNPdbe | rs28932177 |
| MSV3d | rs28932177 |
| GWAS Ctlg | rs28932177 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
| ClinVar | |
|---|---|
| Risk | rs28932177(A;A) |
| Alt | rs28932177(A;A) |
| Reference | Rs28932177(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Beckwith-Wiedemann syndrome Sotos Syndrome Weaver syndrome |
| Variation | info |
| Gene | NSD1 |
| CLNDBN | not specified Beckwith-Wiedemann syndrome Sotos Syndrome Weaver syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176637471G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000146778.2, RCV000228344.2, RCV000314056.1, RCV000403985.1, |
