rs1060502248
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060502248(A;A) |
Make rs1060502248(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 134780147 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502248 |
dbSNP (classic) | rs1060502248 |
ClinGen | rs1060502248 |
ebi | rs1060502248 |
HLI | rs1060502248 |
Exac | rs1060502248 |
Gnomad | rs1060502248 |
Varsome | rs1060502248 |
LitVar | rs1060502248 |
Map | rs1060502248 |
PheGenI | rs1060502248 |
Biobank | rs1060502248 |
1000 genomes | rs1060502248 |
hgdp | rs1060502248 |
ensembl | rs1060502248 |
geneview | rs1060502248 |
scholar | rs1060502248 |
rs1060502248 | |
pharmgkb | rs1060502248 |
gwascentral | rs1060502248 |
openSNP | rs1060502248 |
23andMe | rs1060502248 |
SNPshot | rs1060502248 |
SNPdbe | rs1060502248 |
MSV3d | rs1060502248 |
GWAS Ctlg | rs1060502248 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502248(A;A) |
Alt | rs1060502248(A;A) |
Reference | Rs1060502248(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137671993G>A |
CLNSRC | |
CLNACC | RCV000469802.1, |