rs33946775
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33946775(A;C) |
Make rs33946775(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225643 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33946775 |
dbSNP (classic) | rs33946775 |
ClinGen | rs33946775 |
ebi | rs33946775 |
HLI | rs33946775 |
Exac | rs33946775 |
Gnomad | rs33946775 |
Varsome | rs33946775 |
LitVar | rs33946775 |
Map | rs33946775 |
PheGenI | rs33946775 |
Biobank | rs33946775 |
1000 genomes | rs33946775 |
hgdp | rs33946775 |
ensembl | rs33946775 |
geneview | rs33946775 |
scholar | rs33946775 |
rs33946775 | |
pharmgkb | rs33946775 |
gwascentral | rs33946775 |
openSNP | rs33946775 |
23andMe | rs33946775 |
SNPshot | rs33946775 |
SNPdbe | rs33946775 |
MSV3d | rs33946775 |
GWAS Ctlg | rs33946775 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33946775(C;C) rs33946775(T;T) |
Alt | rs33946775(C;C) rs33946775(T;T) |
Reference | Rs33946775(A;A) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBB |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000011.9:g.5246873T>A; NC_000011.9:g.5246873T>G |
CLNSRC | |
CLNACC |
[PMID 2272843] Hb Yamagata [beta 132(H10)Lys----Asn]: a new abnormal hemoglobin in a Japanese family.
[PMID 8811322] A new observation of Hb Yamagata with a different nucleotide substitution: beta 132 AAA-->AAT.