rs78784172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs78784172(C;C) |
Make rs78784172(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 73417671 |
Gene | ALB |
is a | snp |
is | mentioned by |
dbSNP | rs78784172 |
dbSNP (classic) | rs78784172 |
ClinGen | rs78784172 |
ebi | rs78784172 |
HLI | rs78784172 |
Exac | rs78784172 |
Gnomad | rs78784172 |
Varsome | rs78784172 |
LitVar | rs78784172 |
Map | rs78784172 |
PheGenI | rs78784172 |
Biobank | rs78784172 |
1000 genomes | rs78784172 |
hgdp | rs78784172 |
ensembl | rs78784172 |
geneview | rs78784172 |
scholar | rs78784172 |
rs78784172 | |
pharmgkb | rs78784172 |
gwascentral | rs78784172 |
openSNP | rs78784172 |
23andMe | rs78784172 |
SNPshot | rs78784172 |
SNPdbe | rs78784172 |
MSV3d | rs78784172 |
GWAS Ctlg | rs78784172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78784172(C;C) |
Alt | rs78784172(C;C) |
Reference | Rs78784172(T;T) |
Significance | Untested |
Disease | Analbuminemia |
Variation | info |
Gene | ALB |
CLNDBN | Analbuminemia |
Reversed | 0 |
HGVS | NC_000004.11:g.74283388T>C |
CLNSRC | ClinVar |
CLNACC | RCV000144395.1, |
[PMID 17644793] Analbuminemia produced by a novel splicing mutation.