rs140781106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140781106(A;A) |
Make rs140781106(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50076642 |
Gene | ITGA3 |
is a | snp |
is | mentioned by |
dbSNP | rs140781106 |
dbSNP (classic) | rs140781106 |
ClinGen | rs140781106 |
ebi | rs140781106 |
HLI | rs140781106 |
Exac | rs140781106 |
Gnomad | rs140781106 |
Varsome | rs140781106 |
LitVar | rs140781106 |
Map | rs140781106 |
PheGenI | rs140781106 |
Biobank | rs140781106 |
1000 genomes | rs140781106 |
hgdp | rs140781106 |
ensembl | rs140781106 |
geneview | rs140781106 |
scholar | rs140781106 |
rs140781106 | |
pharmgkb | rs140781106 |
gwascentral | rs140781106 |
openSNP | rs140781106 |
23andMe | rs140781106 |
SNPshot | rs140781106 |
SNPdbe | rs140781106 |
MSV3d | rs140781106 |
GWAS Ctlg | rs140781106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140781106(A;A) rs140781106(C;C) |
Alt | rs140781106(A;A) rs140781106(C;C) |
Reference | Rs140781106(G;G) |
Significance | 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.48154006G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029228.3, |