rs74821926
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs74821926(A;A) |
| Make rs74821926(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 73404398 |
| Gene | ALB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74821926 |
| dbSNP (classic) | rs74821926 |
| ClinGen | rs74821926 |
| ebi | rs74821926 |
| HLI | rs74821926 |
| Exac | rs74821926 |
| Gnomad | rs74821926 |
| Varsome | rs74821926 |
| LitVar | rs74821926 |
| Map | rs74821926 |
| PheGenI | rs74821926 |
| Biobank | rs74821926 |
| 1000 genomes | rs74821926 |
| hgdp | rs74821926 |
| ensembl | rs74821926 |
| geneview | rs74821926 |
| scholar | rs74821926 |
| rs74821926 | |
| pharmgkb | rs74821926 |
| gwascentral | rs74821926 |
| openSNP | rs74821926 |
| 23andMe | rs74821926 |
| SNPshot | rs74821926 |
| SNPdbe | rs74821926 |
| MSV3d | rs74821926 |
| GWAS Ctlg | rs74821926 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74821926(A;A) rs74821926(C;C) rs74821926(T;T) |
| Alt | rs74821926(A;A) rs74821926(C;C) rs74821926(T;T) |
| Reference | Rs74821926(G;G) |
| Significance | Other |
| Disease | Alloalbuminemia Ehlers-Danlos syndrome PROALBUMIN TAKEFU PROALBUMIN JAFFNA |
| Variation | info |
| Gene | ALB |
| CLNDBN | Alloalbuminemia Ehlers-Danlos syndrome, procollagen proteinase deficient PROALBUMIN TAKEFU PROALBUMIN JAFFNA |
| Reversed | 0 |
| HGVS | NC_000004.11:g.74270115G>A; NC_000004.11:g.74270115G>C; NC_000004.11:g.74270115G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019821.3, RCV000144686.2, RCV000019825.3, RCV000144687.3, RCV000019874.1, |
[PMID 154698] [Treatment of idiopathic evolutional scoliosis with night-time vertebral traction and dynamic traction].
[PMID 683332] A circulating variant of human proalbumin.
[PMID 1946412
] Genetic variants of serum albumin in Americans and Japanese.
[PMID 7297678] Proalbumin Lille, a new variant of human serum albumin.
[PMID 7353034] Functional abnormality of proalbumin Christchurch.
[PMID 8037675
] Modified high-affinity binding of Ni2+, Ca2+ and Zn2+ to natural mutants of human serum albumin and proalbumin.
[PMID 3478700
] Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin.
[PMID 2792379] A new proalbumin variant: albumin Jaffna (-1 Arg----Leu).
