Rs11694
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11694 |
| PheGenI | rs11694 |
| nextbio | rs11694 |
| hapmap | rs11694 |
| 1000 genomes | rs11694 |
| hgdp | rs11694 |
| ensembl | rs11694 |
| gopubmed | rs11694 |
| geneview | rs11694 |
| scholar | rs11694 |
| rs11694 | |
| pharmgkb | rs11694 |
| gwascentral | rs11694 |
| openSNP | rs11694 |
| 23andMe | rs11694 |
| 23andMe all | rs11694 |
| SNP Nexus | |
| SNPshot | rs11694 |
| SNPdbe | rs11694 |
| MSV3d | rs11694 |
| Gene | NPC2 |
| Chromosome | 14 |
| Orientation | minus |
| Position | 74951282 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11694(C;C) |
| Make rs11694(C;T) |
| OMIM | 601015 |
| Desc | Niemann-Pick disease , TYPE C2 |
| Variant | 0006 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs11694(C;C) |
| Normal | rs11694(T;T) |
| Significance | 5 |
| Disease | Niemann-Pick disease type C2 |
| ClinVar | info |
| Gene | NPC2 |
| CLNDBN | Niemann-Pick disease type C2 |
| Reversed | 1 |
| CLNHGVS | NC_000014.8:g.74951282A>G |
| CLNSRC | OMIM Allelic Variant, GeneReviews |
[PMID 11567215] Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
[PMID 15937921] Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
