rs771613805
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs771613805(A;G) |
Make rs771613805(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183207879 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs771613805 |
dbSNP (classic) | rs771613805 |
ClinGen | rs771613805 |
ebi | rs771613805 |
HLI | rs771613805 |
Exac | rs771613805 |
Gnomad | rs771613805 |
Varsome | rs771613805 |
LitVar | rs771613805 |
Map | rs771613805 |
PheGenI | rs771613805 |
Biobank | rs771613805 |
1000 genomes | rs771613805 |
hgdp | rs771613805 |
ensembl | rs771613805 |
geneview | rs771613805 |
scholar | rs771613805 |
rs771613805 | |
pharmgkb | rs771613805 |
gwascentral | rs771613805 |
openSNP | rs771613805 |
23andMe | rs771613805 |
SNPshot | rs771613805 |
SNPdbe | rs771613805 |
MSV3d | rs771613805 |
GWAS Ctlg | rs771613805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771613805(G;G) |
Alt | rs771613805(G;G) |
Reference | Rs771613805(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.183177014A>G |
CLNSRC | |
CLNACC | RCV000412415.1, |