Rs11556045
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11556045 |
| PheGenI | rs11556045 |
| nextbio | rs11556045 |
| hapmap | rs11556045 |
| 1000 genomes | rs11556045 |
| hgdp | rs11556045 |
| ensembl | rs11556045 |
| gopubmed | rs11556045 |
| geneview | rs11556045 |
| scholar | rs11556045 |
| rs11556045 | |
| pharmgkb | rs11556045 |
| gwascentral | rs11556045 |
| openSNP | rs11556045 |
| 23andMe | rs11556045 |
| 23andMe all | rs11556045 |
| SNP Nexus | |
| SNPshot | rs11556045 |
| SNPdbe | rs11556045 |
| MSV3d | rs11556045 |
| Gene | HEXB |
| Chromosome | 5 |
| Orientation | plus |
| GMAF | 0.2074 |
| Position | 73985215 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) |
| Make rs11556045(G;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
| Venter snp | |
|---|---|
| Source | plos |
| Gene | HEXB |
| allele | G |
| frequency | 0.212 |
| sift | TOLERATED |
| HuRef | 1103654134455 |
| Disease Association | Defects in HEXB are the cause of Sandhoff disease (SD) (MIM:268800); also known as GM2-gangliosidosis type II. SD is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons. It is clinically indistinguishable from Tay-Sachs disease. |
| ClinVar | |
|---|---|
| Risk | rs11556045(G;G) |
| Normal | rs11556045(A;A) |
| Significance | 2 |
| Disease | |
| ClinVar | info |
| Gene | HEXB |
| CLNDBN | |
| Reversed | 0 |
| CLNHGVS | NC_000005.9:g.73985215A>G |
| CLNSRC | |
[PMID 18704161] Genetic variation in an individual human exome.
| GET Evidence | |
|---|---|
| HEXB-K121R | |
| aa_change | Lys121Arg |
| aa_change_short | K121R |
| impact | benign |
| qualified_impact | Insufficiently evaluated benign |
| overall_frequency | 0.198736 |
| summary | |
