rs33964352
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33964352(A;G) |
Make rs33964352(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225609 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33964352 |
dbSNP (classic) | rs33964352 |
ClinGen | rs33964352 |
ebi | rs33964352 |
HLI | rs33964352 |
Exac | rs33964352 |
Gnomad | rs33964352 |
Varsome | rs33964352 |
LitVar | rs33964352 |
Map | rs33964352 |
PheGenI | rs33964352 |
Biobank | rs33964352 |
1000 genomes | rs33964352 |
hgdp | rs33964352 |
ensembl | rs33964352 |
geneview | rs33964352 |
scholar | rs33964352 |
rs33964352 | |
pharmgkb | rs33964352 |
gwascentral | rs33964352 |
openSNP | rs33964352 |
23andMe | rs33964352 |
SNPshot | rs33964352 |
SNPdbe | rs33964352 |
MSV3d | rs33964352 |
GWAS Ctlg | rs33964352 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33964352(G;G) rs33964352(T;T) |
Alt | rs33964352(G;G) rs33964352(T;T) |
Reference | Rs33964352(A;A) |
Significance | Other |
Disease | HEMOGLOBIN KOCHI HEMOGLOBIN MITO |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN KOCHI HEMOGLOBIN MITO |
Reversed | 1 |
HGVS | NC_000011.9:g.5246839T>A; NC_000011.9:g.5246839T>C |
CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
CLNACC | RCV000016884.2, RCV000016493.2, |
[PMID 21077764] Hb Cambridge-MA [beta144(HC1)-beta146(HC3)Lys-Tyr-His-->0 (HBB c.433 A>T)]: a new high oxygen affinity variant.