rs34769005
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34769005(C;G) |
Make rs34769005(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5227005 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34769005 |
dbSNP (classic) | rs34769005 |
ClinGen | rs34769005 |
ebi | rs34769005 |
HLI | rs34769005 |
Exac | rs34769005 |
Gnomad | rs34769005 |
Varsome | rs34769005 |
LitVar | rs34769005 |
Map | rs34769005 |
PheGenI | rs34769005 |
Biobank | rs34769005 |
1000 genomes | rs34769005 |
hgdp | rs34769005 |
ensembl | rs34769005 |
geneview | rs34769005 |
scholar | rs34769005 |
rs34769005 | |
pharmgkb | rs34769005 |
gwascentral | rs34769005 |
openSNP | rs34769005 |
23andMe | rs34769005 |
SNPshot | rs34769005 |
SNPdbe | rs34769005 |
MSV3d | rs34769005 |
GWAS Ctlg | rs34769005 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34769005(G;G) rs34769005(T;T) |
Alt | rs34769005(G;G) rs34769005(T;T) |
Reference | Rs34769005(C;C) |
Significance | Other |
Disease | HEMOGLOBIN WARWICKSHIRE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN WARWICKSHIRE |
Reversed | 1 |
HGVS | NC_000011.9:g.5248235G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016640.2, |
[PMID 6548451] Haemoglobin Warwickshire (beta 5 [A2] Pro----Arg). A possible 'fine tuning' of 2,3-DPG affinity by beta 5 Pro.