rs750935331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750935331(C;T) |
Make rs750935331(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 77000850 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs750935331 |
dbSNP (classic) | rs750935331 |
ClinGen | rs750935331 |
ebi | rs750935331 |
HLI | rs750935331 |
Exac | rs750935331 |
Gnomad | rs750935331 |
Varsome | rs750935331 |
LitVar | rs750935331 |
Map | rs750935331 |
PheGenI | rs750935331 |
Biobank | rs750935331 |
1000 genomes | rs750935331 |
hgdp | rs750935331 |
ensembl | rs750935331 |
geneview | rs750935331 |
scholar | rs750935331 |
rs750935331 | |
pharmgkb | rs750935331 |
gwascentral | rs750935331 |
openSNP | rs750935331 |
23andMe | rs750935331 |
SNPshot | rs750935331 |
SNPdbe | rs750935331 |
MSV3d | rs750935331 |
GWAS Ctlg | rs750935331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750935331(G;G) rs750935331(T;T) |
Alt | rs750935331(G;G) rs750935331(T;T) |
Reference | Rs750935331(C;C) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 5 |
Variation | info |
Gene | CLN5 |
CLNDBN | Ceroid lipofuscinosis neuronal 5 |
Reversed | 0 |
HGVS | NC_000013.10:g.77574985C>T |
CLNSRC | |
CLNACC | RCV000411598.1, |