rs766902987
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs766902987(-;T) |
Make rs766902987(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 48593378 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs766902987 |
dbSNP (classic) | rs766902987 |
ClinGen | rs766902987 |
ebi | rs766902987 |
HLI | rs766902987 |
Exac | rs766902987 |
Gnomad | rs766902987 |
Varsome | rs766902987 |
LitVar | rs766902987 |
Map | rs766902987 |
PheGenI | rs766902987 |
Biobank | rs766902987 |
1000 genomes | rs766902987 |
hgdp | rs766902987 |
ensembl | rs766902987 |
geneview | rs766902987 |
scholar | rs766902987 |
rs766902987 | |
pharmgkb | rs766902987 |
gwascentral | rs766902987 |
openSNP | rs766902987 |
23andMe | rs766902987 |
SNPshot | rs766902987 |
SNPdbe | rs766902987 |
MSV3d | rs766902987 |
GWAS Ctlg | rs766902987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766902987(T;T) |
Alt | rs766902987(T;T) |
Reference | Rs766902987(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL7A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.48630812dupT |
CLNSRC | |
CLNACC | RCV000268681.1, |