rs77335374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs77335374(A;G) |
Make rs77335374(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73411994 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs77335374 |
dbSNP (classic) | rs77335374 |
ClinGen | rs77335374 |
ebi | rs77335374 |
HLI | rs77335374 |
Exac | rs77335374 |
Gnomad | rs77335374 |
Varsome | rs77335374 |
LitVar | rs77335374 |
Map | rs77335374 |
PheGenI | rs77335374 |
Biobank | rs77335374 |
1000 genomes | rs77335374 |
hgdp | rs77335374 |
ensembl | rs77335374 |
geneview | rs77335374 |
scholar | rs77335374 |
rs77335374 | |
pharmgkb | rs77335374 |
gwascentral | rs77335374 |
openSNP | rs77335374 |
23andMe | rs77335374 |
SNPshot | rs77335374 |
SNPdbe | rs77335374 |
MSV3d | rs77335374 |
GWAS Ctlg | rs77335374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77335374(G;G) rs77335374(T;T) |
Alt | rs77335374(G;G) rs77335374(T;T) |
Reference | Rs77335374(A;A) |
Significance | Pathogenic |
Disease | Analbuminemia |
Variation | info |
Gene | ALB |
CLNDBN | Analbuminemia |
Reversed | 0 |
HGVS | NC_000004.11:g.74277711A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019869.28, |
[PMID 3353369] Splicing mutation in human hereditary analbuminemia.