rs34204059
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34204059(A;A) |
Make rs34204059(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177329 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34204059 |
dbSNP (classic) | rs34204059 |
ClinGen | rs34204059 |
ebi | rs34204059 |
HLI | rs34204059 |
Exac | rs34204059 |
Gnomad | rs34204059 |
Varsome | rs34204059 |
LitVar | rs34204059 |
Map | rs34204059 |
PheGenI | rs34204059 |
Biobank | rs34204059 |
1000 genomes | rs34204059 |
hgdp | rs34204059 |
ensembl | rs34204059 |
geneview | rs34204059 |
scholar | rs34204059 |
rs34204059 | |
pharmgkb | rs34204059 |
gwascentral | rs34204059 |
openSNP | rs34204059 |
23andMe | rs34204059 |
SNPshot | rs34204059 |
SNPdbe | rs34204059 |
MSV3d | rs34204059 |
GWAS Ctlg | rs34204059 |
Merged from | Rs63750290 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34204059(A;A) rs34204059(T;T) |
Alt | rs34204059(A;A) rs34204059(T;T) |
Reference | Rs34204059(C;C) |
Significance | Other |
Disease | HEMOGLOBIN J (TONGARIKI) |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN J (TONGARIKI) |
Reversed | 0 |
HGVS | NC_000016.9:g.227328C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017075.2, |
[PMID 652041] Haemoglobin J Tongariki is associated with alpha thalassaemia.
[PMID 5427353] Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians.