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rs33977363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33977363(A;A)
Make rs33977363(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177059
GeneHBA1
is asnp
is mentioned by
dbSNPrs33977363
ebirs33977363
HLIrs33977363
Exacrs33977363
Varsomers33977363
Maprs33977363
PheGenIrs33977363
hapmaprs33977363
1000 genomesrs33977363
hgdprs33977363
ensemblrs33977363
gopubmedrs33977363
geneviewrs33977363
scholarrs33977363
googlers33977363
pharmgkbrs33977363
gwascentralrs33977363
openSNPrs33977363
23andMers33977363
23andMe allrs33977363
SNP Nexus

SNPshotrs33977363
SNPdbers33977363
MSV3drs33977363
GWAS Ctlgrs33977363
Max Magnitude0
OMIM141800
Desc
Variant0095
Relatedalso
OMIM141800
Desc
Variant0122
Relatedalso
OMIM141800
Desc
Variant0157
Relatedalso
ClinVar
Risk rs33977363(A,C,T;A,C,T)
Alt rs33977363(A,C,T;A,C,T)
Reference rs33977363(G;G)
Significance Other
Disease HEMOGLOBIN MATSUE-OKI HEMOGLOBIN Q (IRAN) HEMOGLOBIN WINNIPEG
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN MATSUE-OKI HEMOGLOBIN Q (IRAN) HEMOGLOBIN WINNIPEG
Reversed 0
HGVS NC_000016.9:g.227058G>A; NC_000016.9:g.227058G>C; NC_000016.9:g.227058G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017107.2, RCV000017145.2, RCV000017179.2,


[PMID 508945] The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.


[PMID 3754247] Some notes about Hb Q-India and Hb Q-Iran.


[PMID 5460202] Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine.


[PMID 4728965] Hemoglobin Winnipeg: alpha2 75 Asp leads to Tyr beta2.


[PMID 6841125] Hb Winnipeg or alpha 2 75(EF4)Asp leads to Tyr beta 2 in a large Caucasian family living in Georgia, USA.


[PMID 640845] Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American.


[PMID 893135] Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine.


[PMID 6814490] Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant.