rs80338755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338755(A;A) |
Make rs80338755(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75727423 |
Gene | ITGB4 |
is a | snp |
is | mentioned by |
dbSNP | rs80338755 |
dbSNP (classic) | rs80338755 |
ClinGen | rs80338755 |
ebi | rs80338755 |
HLI | rs80338755 |
Exac | rs80338755 |
Gnomad | rs80338755 |
Varsome | rs80338755 |
LitVar | rs80338755 |
Map | rs80338755 |
PheGenI | rs80338755 |
Biobank | rs80338755 |
1000 genomes | rs80338755 |
hgdp | rs80338755 |
ensembl | rs80338755 |
geneview | rs80338755 |
scholar | rs80338755 |
rs80338755 | |
pharmgkb | rs80338755 |
gwascentral | rs80338755 |
openSNP | rs80338755 |
23andMe | rs80338755 |
SNPshot | rs80338755 |
SNPdbe | rs80338755 |
MSV3d | rs80338755 |
GWAS Ctlg | rs80338755 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338755(A;A) |
Alt | rs80338755(A;A) |
Reference | Rs80338755(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa junctionalis with pyloric atresia not provided |
Variation | info |
Gene | ITGB4 |
CLNDBN | Epidermolysis bullosa junctionalis with pyloric atresia not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.73723504G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015855.26, RCV000413122.1, |
[PMID 9792864] Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
[PMID 16473856] Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.