rs764495616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764495616(G;T) |
Make rs764495616(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 77000685 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs764495616 |
dbSNP (classic) | rs764495616 |
ClinGen | rs764495616 |
ebi | rs764495616 |
HLI | rs764495616 |
Exac | rs764495616 |
Gnomad | rs764495616 |
Varsome | rs764495616 |
LitVar | rs764495616 |
Map | rs764495616 |
PheGenI | rs764495616 |
Biobank | rs764495616 |
1000 genomes | rs764495616 |
hgdp | rs764495616 |
ensembl | rs764495616 |
geneview | rs764495616 |
scholar | rs764495616 |
rs764495616 | |
pharmgkb | rs764495616 |
gwascentral | rs764495616 |
openSNP | rs764495616 |
23andMe | rs764495616 |
SNPshot | rs764495616 |
SNPdbe | rs764495616 |
MSV3d | rs764495616 |
GWAS Ctlg | rs764495616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764495616(C;C) rs764495616(T;T) |
Alt | rs764495616(C;C) rs764495616(T;T) |
Reference | Rs764495616(G;G) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 5 |
Variation | info |
Gene | CLN5 |
CLNDBN | Ceroid lipofuscinosis neuronal 5 |
Reversed | 0 |
HGVS | NC_000013.10:g.77574820G>T |
CLNSRC | |
CLNACC | RCV000412162.1, |