rs747912732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs747912732(-;C) |
Make rs747912732(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 48585068 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs747912732 |
dbSNP (classic) | rs747912732 |
ClinGen | rs747912732 |
ebi | rs747912732 |
HLI | rs747912732 |
Exac | rs747912732 |
Gnomad | rs747912732 |
Varsome | rs747912732 |
LitVar | rs747912732 |
Map | rs747912732 |
PheGenI | rs747912732 |
Biobank | rs747912732 |
1000 genomes | rs747912732 |
hgdp | rs747912732 |
ensembl | rs747912732 |
geneview | rs747912732 |
scholar | rs747912732 |
rs747912732 | |
pharmgkb | rs747912732 |
gwascentral | rs747912732 |
openSNP | rs747912732 |
23andMe | rs747912732 |
SNPshot | rs747912732 |
SNPdbe | rs747912732 |
MSV3d | rs747912732 |
GWAS Ctlg | rs747912732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747912732(C;C) |
Alt | rs747912732(C;C) |
Reference | Rs747912732(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL7A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.48622502dupC |
CLNSRC | |
CLNACC | RCV000274389.1, |