rs776142807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs776142807(-;-) |
Make rs776142807(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183235622 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs776142807 |
dbSNP (classic) | rs776142807 |
ClinGen | rs776142807 |
ebi | rs776142807 |
HLI | rs776142807 |
Exac | rs776142807 |
Gnomad | rs776142807 |
Varsome | rs776142807 |
LitVar | rs776142807 |
Map | rs776142807 |
PheGenI | rs776142807 |
Biobank | rs776142807 |
1000 genomes | rs776142807 |
hgdp | rs776142807 |
ensembl | rs776142807 |
geneview | rs776142807 |
scholar | rs776142807 |
rs776142807 | |
pharmgkb | rs776142807 |
gwascentral | rs776142807 |
openSNP | rs776142807 |
23andMe | rs776142807 |
SNPshot | rs776142807 |
SNPdbe | rs776142807 |
MSV3d | rs776142807 |
GWAS Ctlg | rs776142807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776142807(-;-) |
Alt | rs776142807(-;-) |
Reference | Rs776142807(A;A) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMC2 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.183204757delA |
CLNSRC | |
CLNACC | RCV000412295.1, |