rs28940569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28940569(C;C) |
Make rs28940569(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 1780495 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs28940569 |
dbSNP (classic) | rs28940569 |
ClinGen | rs28940569 |
ebi | rs28940569 |
HLI | rs28940569 |
Exac | rs28940569 |
Gnomad | rs28940569 |
Varsome | rs28940569 |
LitVar | rs28940569 |
Map | rs28940569 |
PheGenI | rs28940569 |
Biobank | rs28940569 |
1000 genomes | rs28940569 |
hgdp | rs28940569 |
ensembl | rs28940569 |
geneview | rs28940569 |
scholar | rs28940569 |
rs28940569 | |
pharmgkb | rs28940569 |
gwascentral | rs28940569 |
openSNP | rs28940569 |
23andMe | rs28940569 |
SNPshot | rs28940569 |
SNPdbe | rs28940569 |
MSV3d | rs28940569 |
GWAS Ctlg | rs28940569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940569(C;C) |
Alt | rs28940569(C;C) |
Reference | Rs28940569(G;G) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 8 |
Variation | info |
Gene | CLN8 |
CLNDBN | Ceroid lipofuscinosis neuronal 8 |
Reversed | 0 |
HGVS | NC_000008.10:g.1728661G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002937.2, |