rs1800580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs1800580(C;C) |
Make rs1800580(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73419640 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs1800580 |
dbSNP (classic) | rs1800580 |
ClinGen | rs1800580 |
ebi | rs1800580 |
HLI | rs1800580 |
Exac | rs1800580 |
Gnomad | rs1800580 |
Varsome | rs1800580 |
LitVar | rs1800580 |
Map | rs1800580 |
PheGenI | rs1800580 |
Biobank | rs1800580 |
1000 genomes | rs1800580 |
hgdp | rs1800580 |
ensembl | rs1800580 |
geneview | rs1800580 |
scholar | rs1800580 |
rs1800580 | |
pharmgkb | rs1800580 |
gwascentral | rs1800580 |
openSNP | rs1800580 |
23andMe | rs1800580 |
SNPshot | rs1800580 |
SNPdbe | rs1800580 |
MSV3d | rs1800580 |
GWAS Ctlg | rs1800580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1800580(C;C) |
Alt | rs1800580(C;C) |
Reference | Rs1800580(G;G) |
Significance | Other |
Disease | ALBUMIN RUGBY PARK |
Variation | info |
Gene | ALB |
CLNDBN | ALBUMIN RUGBY PARK |
Reversed | 0 |
HGVS | NC_000004.11:g.74285357G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019883.1, |
[PMID 1390939] Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.
[PMID 9392528] Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin.