rs33991223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33991223(A;T) |
Make rs33991223(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177060 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs33991223 |
dbSNP (classic) | rs33991223 |
ClinGen | rs33991223 |
ebi | rs33991223 |
HLI | rs33991223 |
Exac | rs33991223 |
Gnomad | rs33991223 |
Varsome | rs33991223 |
LitVar | rs33991223 |
Map | rs33991223 |
PheGenI | rs33991223 |
Biobank | rs33991223 |
1000 genomes | rs33991223 |
hgdp | rs33991223 |
ensembl | rs33991223 |
geneview | rs33991223 |
scholar | rs33991223 |
rs33991223 | |
pharmgkb | rs33991223 |
gwascentral | rs33991223 |
openSNP | rs33991223 |
23andMe | rs33991223 |
SNPshot | rs33991223 |
SNPdbe | rs33991223 |
MSV3d | rs33991223 |
GWAS Ctlg | rs33991223 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33991223(C;C) rs33991223(G;G) |
Alt | rs33991223(C;C) rs33991223(G;G) |
Reference | Rs33991223(A;A) |
Significance | Other |
Disease | HEMOGLOBIN DUAN HEMOGLOBIN MIZUSHI |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN DUAN HEMOGLOBIN MIZUSHI |
Reversed | 0 |
HGVS | NC_000016.9:g.227059A>C; NC_000016.9:g.227059A>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017015.2, RCV000017116.2, |
[PMID 3384694] Hb Duan [alpha 75(EF4)Asp----Ala], Hb Westmead [alpha 122(H5)His----Gln], and alpha-thalassemia-2 (-4.2 Kb deletion) in a Chinese family.
[PMID 7275664] Hemoglobin Duan, alpha 75(EF4) Asp replaced by Ala, a new variant found in China.
[PMID 7390865] Hemoglobin Mizushi (alpha 75 [EF4]Asp leads to Gly): a new hemoglobin variant observed in a Japanese family.