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

rs111033605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033605(C;C)
Make rs111033605(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173003
GeneHBA2
is asnp
is mentioned by
dbSNPrs111033605
ebirs111033605
HLIrs111033605
Exacrs111033605
Varsomers111033605
Maprs111033605
PheGenIrs111033605
hapmaprs111033605
1000 genomesrs111033605
hgdprs111033605
ensemblrs111033605
gopubmedrs111033605
geneviewrs111033605
scholarrs111033605
googlers111033605
pharmgkbrs111033605
gwascentralrs111033605
openSNPrs111033605
23andMers111033605
23andMe allrs111033605
SNP Nexus

SNPshotrs111033605
SNPdbers111033605
MSV3drs111033605
GWAS Ctlgrs111033605
Max Magnitude0
OMIM141850
Desc
Variant0054
Relatedalso
ClinVar
Risk rs111033605(A,C;A,C)
Alt rs111033605(A,C;A,C)
Reference rs111033605(G;G)
Significance Other
Disease HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG) HEMOGLOBIN G (SINGAPORE) HEMOGLOBIN G (CHINESE)
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG) HEMOGLOBIN G (SINGAPORE) HEMOGLOBIN G (CHINESE)
Reversed 0
HGVS NC_000016.9:g.223002G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016963.1, RCV000016964.1, RCV000016965.1, RCV000016966.1,


[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.