rs769967565
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs769967565(-;-) |
Make rs769967565(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 209627502 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs769967565 |
dbSNP (classic) | rs769967565 |
ClinGen | rs769967565 |
ebi | rs769967565 |
HLI | rs769967565 |
Exac | rs769967565 |
Gnomad | rs769967565 |
Varsome | rs769967565 |
LitVar | rs769967565 |
Map | rs769967565 |
PheGenI | rs769967565 |
Biobank | rs769967565 |
1000 genomes | rs769967565 |
hgdp | rs769967565 |
ensembl | rs769967565 |
geneview | rs769967565 |
scholar | rs769967565 |
rs769967565 | |
pharmgkb | rs769967565 |
gwascentral | rs769967565 |
openSNP | rs769967565 |
23andMe | rs769967565 |
SNPshot | rs769967565 |
SNPdbe | rs769967565 |
MSV3d | rs769967565 |
GWAS Ctlg | rs769967565 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769967565(-;-) |
Alt | rs769967565(-;-) |
Reference | Rs769967565(TG;TG) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMB3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.209800847_209800848delTG |
CLNSRC | |
CLNACC | RCV000169387.1, |