rs863223501
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(G;G) | 0 | common in clinvar |
Make rs863223501(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189104271 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223501 |
dbSNP (classic) | rs863223501 |
ClinGen | rs863223501 |
ebi | rs863223501 |
HLI | rs863223501 |
Exac | rs863223501 |
Gnomad | rs863223501 |
Varsome | rs863223501 |
LitVar | rs863223501 |
Map | rs863223501 |
PheGenI | rs863223501 |
Biobank | rs863223501 |
1000 genomes | rs863223501 |
hgdp | rs863223501 |
ensembl | rs863223501 |
geneview | rs863223501 |
scholar | rs863223501 |
rs863223501 | |
pharmgkb | rs863223501 |
gwascentral | rs863223501 |
openSNP | rs863223501 |
23andMe | rs863223501 |
SNPshot | rs863223501 |
SNPdbe | rs863223501 |
MSV3d | rs863223501 |
GWAS Ctlg | rs863223501 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs863223501(A;A) |
Alt | rs863223501(A;A) |
Reference | Rs863223501(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.189968997C>T |
CLNSRC | |
CLNACC | RCV000198454.1, |