rs786201028
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786201028(A;A) |
Make rs786201028(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 28486617 |
Gene | CLN3 |
is a | snp |
is | mentioned by |
dbSNP | rs786201028 |
dbSNP (classic) | rs786201028 |
ClinGen | rs786201028 |
ebi | rs786201028 |
HLI | rs786201028 |
Exac | rs786201028 |
Gnomad | rs786201028 |
Varsome | rs786201028 |
LitVar | rs786201028 |
Map | rs786201028 |
PheGenI | rs786201028 |
Biobank | rs786201028 |
1000 genomes | rs786201028 |
hgdp | rs786201028 |
ensembl | rs786201028 |
geneview | rs786201028 |
scholar | rs786201028 |
rs786201028 | |
pharmgkb | rs786201028 |
gwascentral | rs786201028 |
openSNP | rs786201028 |
23andMe | rs786201028 |
SNPshot | rs786201028 |
SNPdbe | rs786201028 |
MSV3d | rs786201028 |
GWAS Ctlg | rs786201028 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786201028(A;A) |
Alt | rs786201028(A;A) |
Reference | Rs786201028(G;G) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis |
Variation | info |
Gene | CLN3 NPIPB8 |
CLNDBN | Ceroid lipofuscinosis, neuronal, 3, protracted |
Reversed | 1 |
HGVS | NC_000016.9:g.28497938C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162326.3, |