rs121912467
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912467(C;T) |
Make rs121912467(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75752221 |
Gene | ITGB4 |
is a | snp |
is | mentioned by |
dbSNP | rs121912467 |
dbSNP (classic) | rs121912467 |
ClinGen | rs121912467 |
ebi | rs121912467 |
HLI | rs121912467 |
Exac | rs121912467 |
Gnomad | rs121912467 |
Varsome | rs121912467 |
LitVar | rs121912467 |
Map | rs121912467 |
PheGenI | rs121912467 |
Biobank | rs121912467 |
1000 genomes | rs121912467 |
hgdp | rs121912467 |
ensembl | rs121912467 |
geneview | rs121912467 |
scholar | rs121912467 |
rs121912467 | |
pharmgkb | rs121912467 |
gwascentral | rs121912467 |
openSNP | rs121912467 |
23andMe | rs121912467 |
SNPshot | rs121912467 |
SNPdbe | rs121912467 |
MSV3d | rs121912467 |
GWAS Ctlg | rs121912467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912467(A;A) rs121912467(T;T) |
Alt | rs121912467(A;A) rs121912467(T;T) |
Reference | Rs121912467(C;C) |
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.73748302C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015863.25, RCV000359496.1, |