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rs33964352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33964352(A;G)
Make rs33964352(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225609
GeneHBB
is asnp
is mentioned by
dbSNPrs33964352
ebirs33964352
HLIrs33964352
Exacrs33964352
Varsomers33964352
Maprs33964352
PheGenIrs33964352
hapmaprs33964352
1000 genomesrs33964352
hgdprs33964352
ensemblrs33964352
gopubmedrs33964352
geneviewrs33964352
scholarrs33964352
googlers33964352
pharmgkbrs33964352
gwascentralrs33964352
openSNPrs33964352
23andMers33964352
23andMe allrs33964352
SNP Nexus

SNPshotrs33964352
SNPdbers33964352
MSV3drs33964352
GWAS Ctlgrs33964352
Max Magnitude0
OMIM141900
Desc
Variant0178
Relatedalso
ClinVar
Risk rs33964352(G,T;G,T)
Alt rs33964352(G,T;G,T)
Reference rs33964352(A;A)
Significance Other
Disease HEMOGLOBIN KOCHI HEMOGLOBIN MITO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KOCHI HEMOGLOBIN MITO
Reversed 1
HGVS NC_000011.9:g.5246839T>A; NC_000011.9:g.5246839T>C
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016884.2, RCV000016493.2,


[PMID 21077764] Hb Cambridge-MA [beta144(HC1)-beta146(HC3)Lys-Tyr-His-->0 (HBB c.433 A>T)]: a new high oxygen affinity variant.