rs763559509
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763559509(-;-) |
Make rs763559509(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 209629891 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs763559509 |
dbSNP (classic) | rs763559509 |
ClinGen | rs763559509 |
ebi | rs763559509 |
HLI | rs763559509 |
Exac | rs763559509 |
Gnomad | rs763559509 |
Varsome | rs763559509 |
LitVar | rs763559509 |
Map | rs763559509 |
PheGenI | rs763559509 |
Biobank | rs763559509 |
1000 genomes | rs763559509 |
hgdp | rs763559509 |
ensembl | rs763559509 |
geneview | rs763559509 |
scholar | rs763559509 |
rs763559509 | |
pharmgkb | rs763559509 |
gwascentral | rs763559509 |
openSNP | rs763559509 |
23andMe | rs763559509 |
SNPshot | rs763559509 |
SNPdbe | rs763559509 |
MSV3d | rs763559509 |
GWAS Ctlg | rs763559509 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763559509(-;-) |
Alt | rs763559509(-;-) |
Reference | Rs763559509(G;G) |
Significance | Probable-Pathogenic |
Disease | Epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMB3 |
CLNDBN | Epidermolysis bullosa, junctional Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.209803236delG |
CLNSRC | |
CLNACC | RCV000399329.1, RCV000409820.1, |