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rs33944813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33944813(A;T)
Make rs33944813(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177102
GeneHBA1
is asnp
is mentioned by
dbSNPrs33944813
ebirs33944813
HLIrs33944813
Exacrs33944813
Varsomers33944813
Maprs33944813
PheGenIrs33944813
hapmaprs33944813
1000 genomesrs33944813
hgdprs33944813
ensemblrs33944813
gopubmedrs33944813
geneviewrs33944813
scholarrs33944813
googlers33944813
pharmgkbrs33944813
gwascentralrs33944813
openSNPrs33944813
23andMers33944813
23andMe allrs33944813
SNP Nexus

SNPshotrs33944813
SNPdbers33944813
MSV3drs33944813
GWAS Ctlgrs33944813
Max Magnitude0
OMIM141800
Desc
Variant0172
Relatedalso
OMIM141800
Desc
Variant0214
Relatedalso
OMIM141800
Desc
Variant0215
Relatedalso
ClinVar
Risk rs33944813(C,G,T;C,G,T)
Alt rs33944813(C,G,T;C,G,T)
Reference rs33944813(A;A)
Significance Other
Disease HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON
Reversed 0
HGVS NC_000016.9:g.227101A>C; NC_000016.9:g.227101A>G; NC_000016.9:g.227101A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017233.2, RCV000017234.2, RCV000017192.2,


[PMID 1486044] Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb luton, alpha 89 His-->Leu) and alpha thalassaemia trait.