rs794726676
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794726676(-;-) |
Make rs794726676(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 75755762 |
Gene | ITGB4 |
is a | snp |
is | mentioned by |
dbSNP | rs794726676 |
dbSNP (classic) | rs794726676 |
ClinGen | rs794726676 |
ebi | rs794726676 |
HLI | rs794726676 |
Exac | rs794726676 |
Gnomad | rs794726676 |
Varsome | rs794726676 |
LitVar | rs794726676 |
Map | rs794726676 |
PheGenI | rs794726676 |
Biobank | rs794726676 |
1000 genomes | rs794726676 |
hgdp | rs794726676 |
ensembl | rs794726676 |
geneview | rs794726676 |
scholar | rs794726676 |
rs794726676 | |
pharmgkb | rs794726676 |
gwascentral | rs794726676 |
openSNP | rs794726676 |
23andMe | rs794726676 |
SNPshot | rs794726676 |
SNPdbe | rs794726676 |
MSV3d | rs794726676 |
GWAS Ctlg | rs794726676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726676(-;-) |
Alt | rs794726676(-;-) |
Reference | Rs794726676(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa junctionalis with pyloric atresia |
Variation | info |
Gene | ITGB4 |
CLNDBN | Epidermolysis bullosa junctionalis with pyloric atresia |
Reversed | 0 |
HGVS | NC_000017.10:g.73751843delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015852.26, |