rs80358253
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80358253(A;C) |
Make rs80358253(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 23541355 |
Gene | NPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358253 |
dbSNP (classic) | rs80358253 |
ClinGen | rs80358253 |
ebi | rs80358253 |
HLI | rs80358253 |
Exac | rs80358253 |
Gnomad | rs80358253 |
Varsome | rs80358253 |
LitVar | rs80358253 |
Map | rs80358253 |
PheGenI | rs80358253 |
Biobank | rs80358253 |
1000 genomes | rs80358253 |
hgdp | rs80358253 |
ensembl | rs80358253 |
geneview | rs80358253 |
scholar | rs80358253 |
rs80358253 | |
pharmgkb | rs80358253 |
gwascentral | rs80358253 |
openSNP | rs80358253 |
23andMe | rs80358253 |
SNPshot | rs80358253 |
SNPdbe | rs80358253 |
MSV3d | rs80358253 |
GWAS Ctlg | rs80358253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358253(C;C) |
Alt | rs80358253(C;C) |
Reference | Rs80358253(A;A) |
Significance | Pathogenic |
Disease | Niemann-Pick disease type C1 |
Variation | info |
Gene | NPC1 |
CLNDBN | Niemann-Pick disease type C1 |
Reversed | 1 |
HGVS | NC_000018.9:g.21121319T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020226.4, |
[PMID 11333381] Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.