rs113452150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113452150(A;A) |
Make rs113452150(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134824807 |
Gene | COL5A1, LOC101448202 |
is a | snp |
is | mentioned by |
dbSNP | rs113452150 |
dbSNP (classic) | rs113452150 |
ClinGen | rs113452150 |
ebi | rs113452150 |
HLI | rs113452150 |
Exac | rs113452150 |
Gnomad | rs113452150 |
Varsome | rs113452150 |
LitVar | rs113452150 |
Map | rs113452150 |
PheGenI | rs113452150 |
Biobank | rs113452150 |
1000 genomes | rs113452150 |
hgdp | rs113452150 |
ensembl | rs113452150 |
geneview | rs113452150 |
scholar | rs113452150 |
rs113452150 | |
pharmgkb | rs113452150 |
gwascentral | rs113452150 |
openSNP | rs113452150 |
23andMe | rs113452150 |
SNPshot | rs113452150 |
SNPdbe | rs113452150 |
MSV3d | rs113452150 |
GWAS Ctlg | rs113452150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113452150(A;A) |
Alt | rs113452150(A;A) |
Reference | Rs113452150(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | COL5A1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.137716653G>A |
CLNSRC | |
CLNACC | RCV000200444.4, |