rs386833651
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833651(A;A) |
Make rs386833651(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 40089409 |
Gene | PPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833651 |
dbSNP (classic) | rs386833651 |
ClinGen | rs386833651 |
ebi | rs386833651 |
HLI | rs386833651 |
Exac | rs386833651 |
Gnomad | rs386833651 |
Varsome | rs386833651 |
LitVar | rs386833651 |
Map | rs386833651 |
PheGenI | rs386833651 |
Biobank | rs386833651 |
1000 genomes | rs386833651 |
hgdp | rs386833651 |
ensembl | rs386833651 |
geneview | rs386833651 |
scholar | rs386833651 |
rs386833651 | |
pharmgkb | rs386833651 |
gwascentral | rs386833651 |
openSNP | rs386833651 |
23andMe | rs386833651 |
SNPshot | rs386833651 |
SNPdbe | rs386833651 |
MSV3d | rs386833651 |
GWAS Ctlg | rs386833651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833651(A;A) |
Alt | rs386833651(A;A) |
Reference | Rs386833651(G;G) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 1 |
Variation | info |
Gene | PPT1 |
CLNDBN | Ceroid lipofuscinosis neuronal 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.40555081C>T |
CLNSRC | ClinVar |
CLNACC | RCV000049610.1, |
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.