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rs33972894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33972894(G;T)
Make rs33972894(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173555
GeneHBA2
is asnp
is mentioned by
dbSNPrs33972894
ebirs33972894
HLIrs33972894
Exacrs33972894
Varsomers33972894
Maprs33972894
PheGenIrs33972894
hapmaprs33972894
1000 genomesrs33972894
hgdprs33972894
ensemblrs33972894
gopubmedrs33972894
geneviewrs33972894
scholarrs33972894
googlers33972894
pharmgkbrs33972894
gwascentralrs33972894
openSNPrs33972894
23andMers33972894
23andMe allrs33972894
SNP Nexus

SNPshotrs33972894
SNPdbers33972894
MSV3drs33972894
GWAS Ctlgrs33972894
Max Magnitude0
OMIM141800
Desc
Variant0079
Relatedalso
ClinVar
Risk rs33972894(C,T;C,T)
Alt rs33972894(C,T;C,T)
Reference rs33972894(G;G)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223554G>C; NC_000016.9:g.223554G>T
CLNSRC
CLNACC


[PMID 949045] Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn.


[PMID 6655018] Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography.