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rs33983416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33983416(C;T)
Make rs33983416(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173295
GeneHBA2
is asnp
is mentioned by
dbSNPrs33983416
ebirs33983416
HLIrs33983416
Exacrs33983416
Varsomers33983416
Maprs33983416
PheGenIrs33983416
hapmaprs33983416
1000 genomesrs33983416
hgdprs33983416
ensemblrs33983416
gopubmedrs33983416
geneviewrs33983416
scholarrs33983416
googlers33983416
pharmgkbrs33983416
gwascentralrs33983416
openSNPrs33983416
23andMers33983416
23andMe allrs33983416
SNP Nexus

SNPshotrs33983416
SNPdbers33983416
MSV3drs33983416
GWAS Ctlgrs33983416
Max Magnitude0
OMIM141850
Desc
Variant0016
Relatedalso
ClinVar
Risk rs33983416(A,G,T;A,G,T)
Alt rs33983416(A,G,T;A,G,T)
Reference rs33983416(C;C)
Significance Other
Disease HEMOGLOBIN COLUMBIA MISSOURI
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN COLUMBIA MISSOURI
Reversed 0
HGVS NC_000016.9:g.223294C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016895.1,


[PMID 1988759] Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.


[PMID 7852082] The use of Staphylococcus V8 protease in the structural determination of human hemoglobin variants: HB Valparaiso [alpha 88(F9)Ala-->Gly] example.