rs796052927
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796052927(C;C) |
Make rs796052927(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 40097237 |
Gene | PPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs796052927 |
dbSNP (classic) | rs796052927 |
ClinGen | rs796052927 |
ebi | rs796052927 |
HLI | rs796052927 |
Exac | rs796052927 |
Gnomad | rs796052927 |
Varsome | rs796052927 |
LitVar | rs796052927 |
Map | rs796052927 |
PheGenI | rs796052927 |
Biobank | rs796052927 |
1000 genomes | rs796052927 |
hgdp | rs796052927 |
ensembl | rs796052927 |
geneview | rs796052927 |
scholar | rs796052927 |
rs796052927 | |
pharmgkb | rs796052927 |
gwascentral | rs796052927 |
openSNP | rs796052927 |
23andMe | rs796052927 |
SNPshot | rs796052927 |
SNPdbe | rs796052927 |
MSV3d | rs796052927 |
GWAS Ctlg | rs796052927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052927(C;C) |
Alt | rs796052927(C;C) |
Reference | Rs796052927(T;T) |
Significance | Pathogenic |
Disease | not provided Ceroid lipofuscinosis neuronal 1 |
Variation | info |
Gene | PPT1 |
CLNDBN | not provided Ceroid lipofuscinosis neuronal 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.40562909A>G |
CLNSRC | |
CLNACC | RCV000188725.2, RCV000410251.1, |