rs786204644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs786204644(-;-) |
Make rs786204644(-;AT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 77000669 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs786204644 |
dbSNP (classic) | rs786204644 |
ClinGen | rs786204644 |
ebi | rs786204644 |
HLI | rs786204644 |
Exac | rs786204644 |
Gnomad | rs786204644 |
Varsome | rs786204644 |
LitVar | rs786204644 |
Map | rs786204644 |
PheGenI | rs786204644 |
Biobank | rs786204644 |
1000 genomes | rs786204644 |
hgdp | rs786204644 |
ensembl | rs786204644 |
geneview | rs786204644 |
scholar | rs786204644 |
rs786204644 | |
pharmgkb | rs786204644 |
gwascentral | rs786204644 |
openSNP | rs786204644 |
23andMe | rs786204644 |
SNPshot | rs786204644 |
SNPdbe | rs786204644 |
MSV3d | rs786204644 |
GWAS Ctlg | rs786204644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204644(-;-) |
Alt | rs786204644(-;-) |
Reference | Rs786204644(AT;AT) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis |
Variation | info |
Gene | CLN5 |
CLNDBN | Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis |
Reversed | 0 |
HGVS | NC_000013.10:g.77574804_77574805delAT |
CLNSRC | |
CLNACC | RCV000169429.1, RCV000413943.1, RCV000468638.1, |