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).