rs483352880
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs483352880(-;C) |
Make rs483352880(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 23568869 |
Gene | NPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs483352880 |
dbSNP (classic) | rs483352880 |
ClinGen | rs483352880 |
ebi | rs483352880 |
HLI | rs483352880 |
Exac | rs483352880 |
Gnomad | rs483352880 |
Varsome | rs483352880 |
LitVar | rs483352880 |
Map | rs483352880 |
PheGenI | rs483352880 |
Biobank | rs483352880 |
1000 genomes | rs483352880 |
hgdp | rs483352880 |
ensembl | rs483352880 |
geneview | rs483352880 |
scholar | rs483352880 |
rs483352880 | |
pharmgkb | rs483352880 |
gwascentral | rs483352880 |
openSNP | rs483352880 |
23andMe | rs483352880 |
SNPshot | rs483352880 |
SNPdbe | rs483352880 |
MSV3d | rs483352880 |
GWAS Ctlg | rs483352880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352880(C;C) |
Alt | rs483352880(C;C) |
Reference | Rs483352880(-;-) |
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.21148834dupG |
CLNSRC | ClinVar |
CLNACC | RCV000119338.1, |