rs764446683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs764446683(C;G) |
Make rs764446683(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134824793 |
Gene | COL5A1, LOC101448202 |
is a | snp |
is | mentioned by |
dbSNP | rs764446683 |
dbSNP (classic) | rs764446683 |
ClinGen | rs764446683 |
ebi | rs764446683 |
HLI | rs764446683 |
Exac | rs764446683 |
Gnomad | rs764446683 |
Varsome | rs764446683 |
LitVar | rs764446683 |
Map | rs764446683 |
PheGenI | rs764446683 |
Biobank | rs764446683 |
1000 genomes | rs764446683 |
hgdp | rs764446683 |
ensembl | rs764446683 |
geneview | rs764446683 |
scholar | rs764446683 |
rs764446683 | |
pharmgkb | rs764446683 |
gwascentral | rs764446683 |
openSNP | rs764446683 |
23andMe | rs764446683 |
SNPshot | rs764446683 |
SNPdbe | rs764446683 |
MSV3d | rs764446683 |
GWAS Ctlg | rs764446683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764446683(A;A) rs764446683(G;G) rs764446683(T;T) |
Alt | rs764446683(A;A) rs764446683(G;G) rs764446683(T;T) |
Reference | Rs764446683(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | COL5A1 |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.137716639C>G; NC_000009.11:g.137716639C>T |
CLNSRC | |
CLNACC | RCV000196702.1, RCV000198222.1, |