rs886039328
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886039328(A;A) |
Make rs886039328(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 48570177 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039328 |
dbSNP (classic) | rs886039328 |
ClinGen | rs886039328 |
ebi | rs886039328 |
HLI | rs886039328 |
Exac | rs886039328 |
Gnomad | rs886039328 |
Varsome | rs886039328 |
LitVar | rs886039328 |
Map | rs886039328 |
PheGenI | rs886039328 |
Biobank | rs886039328 |
1000 genomes | rs886039328 |
hgdp | rs886039328 |
ensembl | rs886039328 |
geneview | rs886039328 |
scholar | rs886039328 |
rs886039328 | |
pharmgkb | rs886039328 |
gwascentral | rs886039328 |
openSNP | rs886039328 |
23andMe | rs886039328 |
SNPshot | rs886039328 |
SNPdbe | rs886039328 |
MSV3d | rs886039328 |
GWAS Ctlg | rs886039328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039328(A;A) |
Alt | rs886039328(A;A) |
Reference | Rs886039328(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL7A1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.48607610C>T |
CLNSRC | |
CLNACC | RCV000254743.1, |