rs557361751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs557361751(C;T) |
Make rs557361751(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134750857 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs557361751 |
dbSNP (classic) | rs557361751 |
ClinGen | rs557361751 |
ebi | rs557361751 |
HLI | rs557361751 |
Exac | rs557361751 |
Gnomad | rs557361751 |
Varsome | rs557361751 |
LitVar | rs557361751 |
Map | rs557361751 |
PheGenI | rs557361751 |
Biobank | rs557361751 |
1000 genomes | rs557361751 |
hgdp | rs557361751 |
ensembl | rs557361751 |
geneview | rs557361751 |
scholar | rs557361751 |
rs557361751 | |
pharmgkb | rs557361751 |
gwascentral | rs557361751 |
openSNP | rs557361751 |
23andMe | rs557361751 |
SNPshot | rs557361751 |
SNPdbe | rs557361751 |
MSV3d | rs557361751 |
GWAS Ctlg | rs557361751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs557361751(T;T) |
Alt | rs557361751(T;T) |
Reference | Rs557361751(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | not specified Ehlers-Danlos syndrome, type 7A |
Reversed | 0 |
HGVS | NC_000009.11:g.137642703C>T |
CLNSRC | |
CLNACC | RCV000196128.2, RCV000408358.1, |