rs786204732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204732(G;G) |
Make rs786204732(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 23921587 |
Gene | LAMA3 |
is a | snp |
is | mentioned by |
dbSNP | rs786204732 |
dbSNP (classic) | rs786204732 |
ClinGen | rs786204732 |
ebi | rs786204732 |
HLI | rs786204732 |
Exac | rs786204732 |
Gnomad | rs786204732 |
Varsome | rs786204732 |
LitVar | rs786204732 |
Map | rs786204732 |
PheGenI | rs786204732 |
Biobank | rs786204732 |
1000 genomes | rs786204732 |
hgdp | rs786204732 |
ensembl | rs786204732 |
geneview | rs786204732 |
scholar | rs786204732 |
rs786204732 | |
pharmgkb | rs786204732 |
gwascentral | rs786204732 |
openSNP | rs786204732 |
23andMe | rs786204732 |
SNPshot | rs786204732 |
SNPdbe | rs786204732 |
MSV3d | rs786204732 |
GWAS Ctlg | rs786204732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204732(G;G) |
Alt | rs786204732(G;G) |
Reference | Rs786204732(T;T) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMA3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000018.9:g.21501551T>G |
CLNSRC | Counsyl |
CLNACC | RCV000169576.1, |