rs34579351
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34579351(A;G) |
Make rs34579351(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226608 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34579351 |
dbSNP (classic) | rs34579351 |
ClinGen | rs34579351 |
ebi | rs34579351 |
HLI | rs34579351 |
Exac | rs34579351 |
Gnomad | rs34579351 |
Varsome | rs34579351 |
LitVar | rs34579351 |
Map | rs34579351 |
PheGenI | rs34579351 |
Biobank | rs34579351 |
1000 genomes | rs34579351 |
hgdp | rs34579351 |
ensembl | rs34579351 |
geneview | rs34579351 |
scholar | rs34579351 |
rs34579351 | |
pharmgkb | rs34579351 |
gwascentral | rs34579351 |
openSNP | rs34579351 |
23andMe | rs34579351 |
SNPshot | rs34579351 |
SNPdbe | rs34579351 |
MSV3d | rs34579351 |
GWAS Ctlg | rs34579351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34579351(G;G) |
Alt | rs34579351(G;G) |
Reference | Rs34579351(A;A) |
Significance | Other |
Disease | HEMOGLOBIN CHANDIGARH |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CHANDIGARH |
Reversed | 1 |
HGVS | NC_000011.9:g.5247838T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016296.2, |
[PMID 2634672] Hb Chandigarh or alpha 2 beta 2(94)(FG1)Asp----Gly observed in an Indian family.
[PMID 15481898] Late emergence of polycythemia in a case of Hb Chandigarh [beta94(FG1)Asp-->Gly].