rs769151482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs769151482(-;-) |
Make rs769151482(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 209626876 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs769151482 |
dbSNP (classic) | rs769151482 |
ClinGen | rs769151482 |
ebi | rs769151482 |
HLI | rs769151482 |
Exac | rs769151482 |
Gnomad | rs769151482 |
Varsome | rs769151482 |
LitVar | rs769151482 |
Map | rs769151482 |
PheGenI | rs769151482 |
Biobank | rs769151482 |
1000 genomes | rs769151482 |
hgdp | rs769151482 |
ensembl | rs769151482 |
geneview | rs769151482 |
scholar | rs769151482 |
rs769151482 | |
pharmgkb | rs769151482 |
gwascentral | rs769151482 |
openSNP | rs769151482 |
23andMe | rs769151482 |
SNPshot | rs769151482 |
SNPdbe | rs769151482 |
MSV3d | rs769151482 |
GWAS Ctlg | rs769151482 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769151482(-;-) |
Alt | rs769151482(-;-) |
Reference | Rs769151482(CT;CT) |
Significance | 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.209800221_209800222delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015649.26, |