rs77449454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(A;A) | 0 | common in clinvar |
Make rs77449454(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73413448 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs77449454 |
dbSNP (classic) | rs77449454 |
ClinGen | rs77449454 |
ebi | rs77449454 |
HLI | rs77449454 |
Exac | rs77449454 |
Gnomad | rs77449454 |
Varsome | rs77449454 |
LitVar | rs77449454 |
Map | rs77449454 |
PheGenI | rs77449454 |
Biobank | rs77449454 |
1000 genomes | rs77449454 |
hgdp | rs77449454 |
ensembl | rs77449454 |
geneview | rs77449454 |
scholar | rs77449454 |
rs77449454 | |
pharmgkb | rs77449454 |
gwascentral | rs77449454 |
openSNP | rs77449454 |
23andMe | rs77449454 |
SNPshot | rs77449454 |
SNPdbe | rs77449454 |
MSV3d | rs77449454 |
GWAS Ctlg | rs77449454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs77449454(A;A) |
Alt | Rs77449454(A;A) |
Reference | Rs77449454(-;-) |
Significance | Pathogenic |
Disease | Analbuminemia |
Variation | info |
Gene | ALB |
CLNDBN | Analbuminemia |
Reversed | 0 |
HGVS | NC_000004.11:g.74279165dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019885.28, |
[PMID 8134387] A nucleotide insertion and frameshift cause analbuminemia in an Italian family.