rs869025567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs869025567(GC;TT) |
Make rs869025567(TT;TT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 150509553 |
Gene | ECM1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025567 |
dbSNP (classic) | rs869025567 |
ClinGen | rs869025567 |
ebi | rs869025567 |
HLI | rs869025567 |
Exac | rs869025567 |
Gnomad | rs869025567 |
Varsome | rs869025567 |
LitVar | rs869025567 |
Map | rs869025567 |
PheGenI | rs869025567 |
Biobank | rs869025567 |
1000 genomes | rs869025567 |
hgdp | rs869025567 |
ensembl | rs869025567 |
geneview | rs869025567 |
scholar | rs869025567 |
rs869025567 | |
pharmgkb | rs869025567 |
gwascentral | rs869025567 |
openSNP | rs869025567 |
23andMe | rs869025567 |
SNPshot | rs869025567 |
SNPdbe | rs869025567 |
MSV3d | rs869025567 |
GWAS Ctlg | rs869025567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025567(TT;TT) |
Alt | rs869025567(TT;TT) |
Reference | Rs869025567(GC;GC) |
Significance | Pathogenic |
Disease | Lipid proteinosis |
Variation | info |
Gene | ECM1 |
CLNDBN | Lipid proteinosis |
Reversed | 0 |
HGVS | NC_000001.10:g.150482029_150482030delGCinsTT |
CLNSRC | |
CLNACC | RCV000208569.1, |