rs543206298
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs543206298(A;A) |
Make rs543206298(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 18 |
Position | 23539405 |
Gene | NPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs543206298 |
dbSNP (classic) | rs543206298 |
ClinGen | rs543206298 |
ebi | rs543206298 |
HLI | rs543206298 |
Exac | rs543206298 |
Gnomad | rs543206298 |
Varsome | rs543206298 |
LitVar | rs543206298 |
Map | rs543206298 |
PheGenI | rs543206298 |
Biobank | rs543206298 |
1000 genomes | rs543206298 |
hgdp | rs543206298 |
ensembl | rs543206298 |
geneview | rs543206298 |
scholar | rs543206298 |
rs543206298 | |
pharmgkb | rs543206298 |
gwascentral | rs543206298 |
openSNP | rs543206298 |
23andMe | rs543206298 |
SNPshot | rs543206298 |
SNPdbe | rs543206298 |
MSV3d | rs543206298 |
GWAS Ctlg | rs543206298 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs543206298(A;A) |
Alt | rs543206298(A;A) |
Reference | Rs543206298(G;G) |
Significance | Pathogenic |
Disease | Niemann-Pick disease type C1 not provided |
Variation | info |
Gene | NPC1 |
CLNDBN | Niemann-Pick disease type C1 not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.21119369G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000158972.3, RCV000254670.2, |