rs564375308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs564375308(C;T) |
Make rs564375308(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134806229 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs564375308 |
dbSNP (classic) | rs564375308 |
ClinGen | rs564375308 |
ebi | rs564375308 |
HLI | rs564375308 |
Exac | rs564375308 |
Gnomad | rs564375308 |
Varsome | rs564375308 |
LitVar | rs564375308 |
Map | rs564375308 |
PheGenI | rs564375308 |
Biobank | rs564375308 |
1000 genomes | rs564375308 |
hgdp | rs564375308 |
ensembl | rs564375308 |
geneview | rs564375308 |
scholar | rs564375308 |
rs564375308 | |
pharmgkb | rs564375308 |
gwascentral | rs564375308 |
openSNP | rs564375308 |
23andMe | rs564375308 |
SNPshot | rs564375308 |
SNPdbe | rs564375308 |
MSV3d | rs564375308 |
GWAS Ctlg | rs564375308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs564375308(T;T) |
Alt | rs564375308(T;T) |
Reference | Rs564375308(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.137698075C>T |
CLNSRC | |
CLNACC | RCV000200766.1, |