rs201551805
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201551805(A;A) |
Make rs201551805(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 209625919 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs201551805 |
dbSNP (classic) | rs201551805 |
ClinGen | rs201551805 |
ebi | rs201551805 |
HLI | rs201551805 |
Exac | rs201551805 |
Gnomad | rs201551805 |
Varsome | rs201551805 |
LitVar | rs201551805 |
Map | rs201551805 |
PheGenI | rs201551805 |
Biobank | rs201551805 |
1000 genomes | rs201551805 |
hgdp | rs201551805 |
ensembl | rs201551805 |
geneview | rs201551805 |
scholar | rs201551805 |
rs201551805 | |
pharmgkb | rs201551805 |
gwascentral | rs201551805 |
openSNP | rs201551805 |
23andMe | rs201551805 |
SNPshot | rs201551805 |
SNPdbe | rs201551805 |
MSV3d | rs201551805 |
GWAS Ctlg | rs201551805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201551805(A;A) |
Alt | rs201551805(A;A) |
Reference | Rs201551805(G;G) |
Significance | Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz not provided |
Variation | info |
Gene | LAMB3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.209799264G>A |
CLNSRC | |
CLNACC | RCV000169086.1, RCV000254699.1, |