rs33977536
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33977536(A;G) |
Make rs33977536(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226957 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33977536 |
dbSNP (classic) | rs33977536 |
ClinGen | rs33977536 |
ebi | rs33977536 |
HLI | rs33977536 |
Exac | rs33977536 |
Gnomad | rs33977536 |
Varsome | rs33977536 |
LitVar | rs33977536 |
Map | rs33977536 |
PheGenI | rs33977536 |
Biobank | rs33977536 |
1000 genomes | rs33977536 |
hgdp | rs33977536 |
ensembl | rs33977536 |
geneview | rs33977536 |
scholar | rs33977536 |
rs33977536 | |
pharmgkb | rs33977536 |
gwascentral | rs33977536 |
openSNP | rs33977536 |
23andMe | rs33977536 |
SNPshot | rs33977536 |
SNPdbe | rs33977536 |
MSV3d | rs33977536 |
GWAS Ctlg | rs33977536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33977536(G;G) rs33977536(T;T) |
Alt | rs33977536(G;G) rs33977536(T;T) |
Reference | Rs33977536(A;A) |
Significance | Other |
Disease | HEMOGLOBIN CONNECTICUT |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CONNECTICUT |
Reversed | 1 |
HGVS | NC_000011.9:g.5248187T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016305.3, |
[PMID 7304605] Hemoglobin connecticut (beta 21 (B3) Asp leads to Gly): a hemoglobin variant with low oxygen affinity.
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.