rs794727994
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727994(A;G) |
Make rs794727994(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 160314104 |
Gene | COPA |
is a | snp |
is | mentioned by |
dbSNP | rs794727994 |
dbSNP (classic) | rs794727994 |
ClinGen | rs794727994 |
ebi | rs794727994 |
HLI | rs794727994 |
Exac | rs794727994 |
Gnomad | rs794727994 |
Varsome | rs794727994 |
LitVar | rs794727994 |
Map | rs794727994 |
PheGenI | rs794727994 |
Biobank | rs794727994 |
1000 genomes | rs794727994 |
hgdp | rs794727994 |
ensembl | rs794727994 |
geneview | rs794727994 |
scholar | rs794727994 |
rs794727994 | |
pharmgkb | rs794727994 |
gwascentral | rs794727994 |
openSNP | rs794727994 |
23andMe | rs794727994 |
SNPshot | rs794727994 |
SNPdbe | rs794727994 |
MSV3d | rs794727994 |
GWAS Ctlg | rs794727994 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727994(G;G) |
Alt | rs794727994(G;G) |
Reference | Rs794727994(A;A) |
Significance | Pathogenic |
Disease | Autoimmune interstitial lung |
Variation | info |
Gene | COPA |
CLNDBN | Autoimmune interstitial lung, joint, and kidney disease |
Reversed | 1 |
HGVS | NC_000001.10:g.160283894T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000180777.3, |