Have questions? Visit https://www.reddit.com/r/SNPedia

rs33993166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33993166(C;C)
Make rs33993166(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176807
GeneHBA1
is asnp
is mentioned by
dbSNPrs33993166
ebirs33993166
HLIrs33993166
Exacrs33993166
Varsomers33993166
Maprs33993166
PheGenIrs33993166
hapmaprs33993166
1000 genomesrs33993166
hgdprs33993166
ensemblrs33993166
gopubmedrs33993166
geneviewrs33993166
scholarrs33993166
googlers33993166
pharmgkbrs33993166
gwascentralrs33993166
openSNPrs33993166
23andMers33993166
23andMe allrs33993166
SNP Nexus

SNPshotrs33993166
SNPdbers33993166
MSV3drs33993166
GWAS Ctlgrs33993166
Max Magnitude0
OMIM141800
Desc
Variant0111
Relatedalso
OMIM141850
Desc
Variant0054
Relatedalso
ClinVar
Risk rs33993166(A,C;A,C)
Alt rs33993166(A,C;A,C)
Reference rs33993166(G;G)
Significance Other
Disease HEMOGLOBIN O (PADOVA)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN O (PADOVA)
Reversed 0
HGVS NC_000016.9:g.226806G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017132.2,


[PMID 2117321] Hb O Padova in a Spanish Family.


[PMID 2869010] Hemoglobin O-Padova or alpha(2)30(B11)Glu----Lys beta 2 observed in members of a Turkish family.


[PMID 4429803] A new abnormal hemoglobin O Padova, alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient.


[PMID 6866546] Association between Hb O Padova [alpha 30 (B 11) Glu leads to Lys] and Rendu-Osler disease.


[PMID 9215129OA-icon.png] Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes.


[PMID 10868862] Evaluation of HbA1c determination methods in patients with hemoglobinopathies.


[PMID 12195002OA-icon.png] Silent haemoglobin variants and determination of HbA(1c) with the HPLC Bio-Rad Variant II.


[PMID 5081025] Hemoglobin G Chinese in Chinese subjects in Taiwan.


[PMID 6238696] [A case of HbG Chinese found in Henan].


[PMID 11939521] Hb G-Chinese: a G-->C substitution at codon 30 of the alpha2-globin gene creates a PstI cutting site.


[PMID 12403500] Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family.