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rs33991223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33991223(A;T)
Make rs33991223(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177060
GeneHBA1
is asnp
is mentioned by
dbSNPrs33991223
ebirs33991223
HLIrs33991223
Exacrs33991223
Varsomers33991223
Maprs33991223
PheGenIrs33991223
hapmaprs33991223
1000 genomesrs33991223
hgdprs33991223
ensemblrs33991223
gopubmedrs33991223
geneviewrs33991223
scholarrs33991223
googlers33991223
pharmgkbrs33991223
gwascentralrs33991223
openSNPrs33991223
23andMers33991223
23andMe allrs33991223
SNP Nexus

SNPshotrs33991223
SNPdbers33991223
MSV3drs33991223
GWAS Ctlgrs33991223
Max Magnitude0
OMIM141800
Desc
Variant0028
Relatedalso
OMIM141800
Desc
Variant0100
Relatedalso
OMIM141850
Desc
Variant0070
Relatedalso
ClinVar
Risk rs33991223(C,G;C,G)
Alt rs33991223(C,G;C,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
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.