rs771415085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs771415085(C;C) |
Make rs771415085(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189035106 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs771415085 |
dbSNP (classic) | rs771415085 |
ClinGen | rs771415085 |
ebi | rs771415085 |
HLI | rs771415085 |
Exac | rs771415085 |
Gnomad | rs771415085 |
Varsome | rs771415085 |
LitVar | rs771415085 |
Map | rs771415085 |
PheGenI | rs771415085 |
Biobank | rs771415085 |
1000 genomes | rs771415085 |
hgdp | rs771415085 |
ensembl | rs771415085 |
geneview | rs771415085 |
scholar | rs771415085 |
rs771415085 | |
pharmgkb | rs771415085 |
gwascentral | rs771415085 |
openSNP | rs771415085 |
23andMe | rs771415085 |
SNPshot | rs771415085 |
SNPdbe | rs771415085 |
MSV3d | rs771415085 |
GWAS Ctlg | rs771415085 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771415085(A;A) rs771415085(C;C) rs771415085(T;T) |
Alt | rs771415085(A;A) rs771415085(C;C) rs771415085(T;T) |
Reference | Rs771415085(G;G) |
Significance | Probable-Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A2 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000002.11:g.189899832G>A; NC_000002.11:g.189899832G>T |
CLNSRC | |
CLNACC | RCV000458973.1, RCV000190499.2, |