rs77081291
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs77081291(-;-) |
Make rs77081291(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73418269 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs77081291 |
dbSNP (classic) | rs77081291 |
ClinGen | rs77081291 |
ebi | rs77081291 |
HLI | rs77081291 |
Exac | rs77081291 |
Gnomad | rs77081291 |
Varsome | rs77081291 |
LitVar | rs77081291 |
Map | rs77081291 |
PheGenI | rs77081291 |
Biobank | rs77081291 |
1000 genomes | rs77081291 |
hgdp | rs77081291 |
ensembl | rs77081291 |
geneview | rs77081291 |
scholar | rs77081291 |
rs77081291 | |
pharmgkb | rs77081291 |
gwascentral | rs77081291 |
openSNP | rs77081291 |
23andMe | rs77081291 |
SNPshot | rs77081291 |
SNPdbe | rs77081291 |
MSV3d | rs77081291 |
GWAS Ctlg | rs77081291 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77081291(-;-) |
Alt | rs77081291(-;-) |
Reference | Rs77081291(T;T) |
Significance | Untested |
Disease | Analbuminemia |
Variation | info |
Gene | ALB |
CLNDBN | Analbuminemia |
Reversed | 0 |
HGVS | NC_000004.11:g.74283986delT |
CLNSRC | ClinVar |
CLNACC | RCV000144396.1, |
[PMID 18801349] Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification.