rs771788391
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs771788391(A;T) |
Make rs771788391(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 28482475 |
Gene | CLN3 |
is a | snp |
is | mentioned by |
dbSNP | rs771788391 |
dbSNP (classic) | rs771788391 |
ClinGen | rs771788391 |
ebi | rs771788391 |
HLI | rs771788391 |
Exac | rs771788391 |
Gnomad | rs771788391 |
Varsome | rs771788391 |
LitVar | rs771788391 |
Map | rs771788391 |
PheGenI | rs771788391 |
Biobank | rs771788391 |
1000 genomes | rs771788391 |
hgdp | rs771788391 |
ensembl | rs771788391 |
geneview | rs771788391 |
scholar | rs771788391 |
rs771788391 | |
pharmgkb | rs771788391 |
gwascentral | rs771788391 |
openSNP | rs771788391 |
23andMe | rs771788391 |
SNPshot | rs771788391 |
SNPdbe | rs771788391 |
MSV3d | rs771788391 |
GWAS Ctlg | rs771788391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771788391(T;T) |
Alt | rs771788391(T;T) |
Reference | Rs771788391(A;A) |
Significance | Probable-Pathogenic |
Disease | Juvenile neuronal ceroid lipofuscinosis |
Variation | info |
Gene | CLN3 NPIPB8 |
CLNDBN | Juvenile neuronal ceroid lipofuscinosis |
Reversed | 0 |
HGVS | NC_000016.9:g.28493796A>T |
CLNSRC | |
CLNACC | RCV000410383.1, |