rs34362537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34362537(C;C) |
Make rs34362537(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226677 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34362537 |
dbSNP (classic) | rs34362537 |
ClinGen | rs34362537 |
ebi | rs34362537 |
HLI | rs34362537 |
Exac | rs34362537 |
Gnomad | rs34362537 |
Varsome | rs34362537 |
LitVar | rs34362537 |
Map | rs34362537 |
PheGenI | rs34362537 |
Biobank | rs34362537 |
1000 genomes | rs34362537 |
hgdp | rs34362537 |
ensembl | rs34362537 |
geneview | rs34362537 |
scholar | rs34362537 |
rs34362537 | |
pharmgkb | rs34362537 |
gwascentral | rs34362537 |
openSNP | rs34362537 |
23andMe | rs34362537 |
SNPshot | rs34362537 |
SNPdbe | rs34362537 |
MSV3d | rs34362537 |
GWAS Ctlg | rs34362537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34362537(C;C) |
Alt | rs34362537(C;C) |
Reference | Rs34362537(T;T) |
Significance | Other |
Disease | HEMOGLOBIN CHRISTCHURCH |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CHRISTCHURCH |
Reversed | 1 |
HGVS | NC_000011.9:g.5247907A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016300.3, |
[PMID 3841344] An example of Hb Christchurch in Japan. Identification by high-performance liquid chromatography.
[PMID 5559958] A new approach to haemoglobin variant identification. Haemoglobin Christchurch beta-71 (E15) phenylalanine leads to serine.