rs33973589
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33973589(C;G) |
Make rs33973589(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225673 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33973589 |
dbSNP (classic) | rs33973589 |
ClinGen | rs33973589 |
ebi | rs33973589 |
HLI | rs33973589 |
Exac | rs33973589 |
Gnomad | rs33973589 |
Varsome | rs33973589 |
LitVar | rs33973589 |
Map | rs33973589 |
PheGenI | rs33973589 |
Biobank | rs33973589 |
1000 genomes | rs33973589 |
hgdp | rs33973589 |
ensembl | rs33973589 |
geneview | rs33973589 |
scholar | rs33973589 |
rs33973589 | |
pharmgkb | rs33973589 |
gwascentral | rs33973589 |
openSNP | rs33973589 |
23andMe | rs33973589 |
SNPshot | rs33973589 |
SNPdbe | rs33973589 |
MSV3d | rs33973589 |
GWAS Ctlg | rs33973589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33973589(A;A) rs33973589(G;G) rs33973589(T;T) |
Alt | rs33973589(A;A) rs33973589(G;G) rs33973589(T;T) |
Reference | Rs33973589(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBB |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000011.9:g.5246903G>C; NC_000011.9:g.5246903G>T |
CLNSRC | |
CLNACC |
[PMID 10870883] Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu].