rs540704248
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs540704248(C;G) |
Make rs540704248(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 50077024 |
Gene | ITGA3 |
is a | snp |
is | mentioned by |
dbSNP | rs540704248 |
dbSNP (classic) | rs540704248 |
ClinGen | rs540704248 |
ebi | rs540704248 |
HLI | rs540704248 |
Exac | rs540704248 |
Gnomad | rs540704248 |
Varsome | rs540704248 |
LitVar | rs540704248 |
Map | rs540704248 |
PheGenI | rs540704248 |
Biobank | rs540704248 |
1000 genomes | rs540704248 |
hgdp | rs540704248 |
ensembl | rs540704248 |
geneview | rs540704248 |
scholar | rs540704248 |
rs540704248 | |
pharmgkb | rs540704248 |
gwascentral | rs540704248 |
openSNP | rs540704248 |
23andMe | rs540704248 |
SNPshot | rs540704248 |
SNPdbe | rs540704248 |
MSV3d | rs540704248 |
GWAS Ctlg | rs540704248 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs540704248(G;G) rs540704248(T;T) |
Alt | rs540704248(G;G) rs540704248(T;T) |
Reference | Rs540704248(C;C) |
Significance | Probable-Pathogenic |
Disease | Interstitial lung disease |
Variation | info |
Gene | ITGA3 |
CLNDBN | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
Reversed | 0 |
HGVS | NC_000017.10:g.48154388C>G |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191095.1, |