rs80356679
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80356679(A;T) |
Make rs80356679(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 23907863 |
Gene | LAMA3 |
is a | snp |
is | mentioned by |
dbSNP | rs80356679 |
dbSNP (classic) | rs80356679 |
ClinGen | rs80356679 |
ebi | rs80356679 |
HLI | rs80356679 |
Exac | rs80356679 |
Gnomad | rs80356679 |
Varsome | rs80356679 |
LitVar | rs80356679 |
Map | rs80356679 |
PheGenI | rs80356679 |
Biobank | rs80356679 |
1000 genomes | rs80356679 |
hgdp | rs80356679 |
ensembl | rs80356679 |
geneview | rs80356679 |
scholar | rs80356679 |
rs80356679 | |
pharmgkb | rs80356679 |
gwascentral | rs80356679 |
openSNP | rs80356679 |
23andMe | rs80356679 |
SNPshot | rs80356679 |
SNPdbe | rs80356679 |
MSV3d | rs80356679 |
GWAS Ctlg | rs80356679 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356679(T;T) |
Alt | rs80356679(T;T) |
Reference | Rs80356679(A;A) |
Significance | 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.21487827A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020426.2, |