rs1057516249
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516249(-;-) |
Make rs1057516249(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 209630638 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516249 |
dbSNP (classic) | rs1057516249 |
ClinGen | rs1057516249 |
ebi | rs1057516249 |
HLI | rs1057516249 |
Exac | rs1057516249 |
Gnomad | rs1057516249 |
Varsome | rs1057516249 |
LitVar | rs1057516249 |
Map | rs1057516249 |
PheGenI | rs1057516249 |
Biobank | rs1057516249 |
1000 genomes | rs1057516249 |
hgdp | rs1057516249 |
ensembl | rs1057516249 |
geneview | rs1057516249 |
scholar | rs1057516249 |
rs1057516249 | |
pharmgkb | rs1057516249 |
gwascentral | rs1057516249 |
openSNP | rs1057516249 |
23andMe | rs1057516249 |
SNPshot | rs1057516249 |
SNPdbe | rs1057516249 |
MSV3d | rs1057516249 |
GWAS Ctlg | rs1057516249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516249(-;-) |
Alt | rs1057516249(-;-) |
Reference | Rs1057516249(G;G) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMB3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 1 |
HGVS | NC_000001.10:g.209803983delC |
CLNSRC | |
CLNACC | RCV000412191.1, |