rs77408163
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs77408163(A;A) |
Make rs77408163(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73404407 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs77408163 |
dbSNP (classic) | rs77408163 |
ClinGen | rs77408163 |
ebi | rs77408163 |
HLI | rs77408163 |
Exac | rs77408163 |
Gnomad | rs77408163 |
Varsome | rs77408163 |
LitVar | rs77408163 |
Map | rs77408163 |
PheGenI | rs77408163 |
Biobank | rs77408163 |
1000 genomes | rs77408163 |
hgdp | rs77408163 |
ensembl | rs77408163 |
geneview | rs77408163 |
scholar | rs77408163 |
rs77408163 | |
pharmgkb | rs77408163 |
gwascentral | rs77408163 |
openSNP | rs77408163 |
23andMe | rs77408163 |
SNPshot | rs77408163 |
SNPdbe | rs77408163 |
MSV3d | rs77408163 |
GWAS Ctlg | rs77408163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77408163(A;A) |
Alt | rs77408163(A;A) |
Reference | Rs77408163(G;G) |
Significance | Pathogenic |
Disease | Analbuminemia baghdad |
Variation | info |
Gene | ALB |
CLNDBN | Analbuminemia baghdad |
Reversed | 0 |
HGVS | NC_000004.11:g.74270124G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019901.28, |
[PMID 11781148] A novel splicing mutation causes an undescribed type of analbuminemia.