rs35932809
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35932809(A;C) |
Make rs35932809(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177332 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs35932809 |
dbSNP (classic) | rs35932809 |
ClinGen | rs35932809 |
ebi | rs35932809 |
HLI | rs35932809 |
Exac | rs35932809 |
Gnomad | rs35932809 |
Varsome | rs35932809 |
LitVar | rs35932809 |
Map | rs35932809 |
PheGenI | rs35932809 |
Biobank | rs35932809 |
1000 genomes | rs35932809 |
hgdp | rs35932809 |
ensembl | rs35932809 |
geneview | rs35932809 |
scholar | rs35932809 |
rs35932809 | |
pharmgkb | rs35932809 |
gwascentral | rs35932809 |
openSNP | rs35932809 |
23andMe | rs35932809 |
SNPshot | rs35932809 |
SNPdbe | rs35932809 |
MSV3d | rs35932809 |
GWAS Ctlg | rs35932809 |
Merged from | Rs63750606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35932809(C;C) |
Alt | rs35932809(C;C) |
Reference | Rs35932809(A;A) |
Significance | Other |
Disease | HEMOGLOBIN UBE-4 |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN UBE-4 |
Reversed | 0 |
HGVS | NC_000016.9:g.227331A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017177.2, |
[PMID 640856] Characterization of Hb Ube-4: alpha 116 (GH4) Glu yield Ala.
[PMID 750557] Hb Ube-4 (alpha 116 Glu leads to Ala): a second independent instance found in a Korean family of Japan.