rs80356683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80356683(C;T) |
Make rs80356683(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 183215467 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs80356683 |
dbSNP (classic) | rs80356683 |
ClinGen | rs80356683 |
ebi | rs80356683 |
HLI | rs80356683 |
Exac | rs80356683 |
Gnomad | rs80356683 |
Varsome | rs80356683 |
LitVar | rs80356683 |
Map | rs80356683 |
PheGenI | rs80356683 |
Biobank | rs80356683 |
1000 genomes | rs80356683 |
hgdp | rs80356683 |
ensembl | rs80356683 |
geneview | rs80356683 |
scholar | rs80356683 |
rs80356683 | |
pharmgkb | rs80356683 |
gwascentral | rs80356683 |
openSNP | rs80356683 |
23andMe | rs80356683 |
SNPshot | rs80356683 |
SNPdbe | rs80356683 |
MSV3d | rs80356683 |
GWAS Ctlg | rs80356683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356683(T;T) |
Alt | rs80356683(T;T) |
Reference | Rs80356683(C;C) |
Significance | 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.183184602C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015656.26, |
[PMID 8012394] Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).