rs560096
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs560096(C;C) |
| Make rs560096(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 68911494 |
| Gene | IGHMBP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs560096 |
| dbSNP (classic) | rs560096 |
| ClinGen | rs560096 |
| ebi | rs560096 |
| HLI | rs560096 |
| Exac | rs560096 |
| Gnomad | rs560096 |
| Varsome | rs560096 |
| LitVar | rs560096 |
| Map | rs560096 |
| PheGenI | rs560096 |
| Biobank | rs560096 |
| 1000 genomes | rs560096 |
| hgdp | rs560096 |
| ensembl | rs560096 |
| geneview | rs560096 |
| scholar | rs560096 |
| rs560096 | |
| pharmgkb | rs560096 |
| gwascentral | rs560096 |
| openSNP | rs560096 |
| 23andMe | rs560096 |
| SNPshot | rs560096 |
| SNPdbe | rs560096 |
| MSV3d | rs560096 |
| GWAS Ctlg | rs560096 |
| GMAF | 0.2975 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs560096(C;C) |
| Alt | rs560096(C;C) |
| Reference | Rs560096(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Spinal muscular atrophy |
| Variation | info |
| Gene | IGHMBP2 |
| CLNDBN | not specified Spinal muscular atrophy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.68678962T>C |
| CLNSRC | |
| CLNACC | RCV000248264.1, RCV000324070.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 11
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d
