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rs33964317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs33964317(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position176759
GeneHBA1
is asnp
is mentioned by
dbSNPrs33964317
ebirs33964317
HLIrs33964317
Exacrs33964317
Varsomers33964317
Maprs33964317
PheGenIrs33964317
hapmaprs33964317
1000 genomesrs33964317
hgdprs33964317
ensemblrs33964317
gopubmedrs33964317
geneviewrs33964317
scholarrs33964317
googlers33964317
pharmgkbrs33964317
gwascentralrs33964317
openSNPrs33964317
23andMers33964317
23andMe allrs33964317
SNP Nexus

SNPshotrs33964317
SNPdbers33964317
MSV3drs33964317
GWAS Ctlgrs33964317
Max Magnitude3
OMIM141800
Desc
Variant0031
Relatedalso
ClinVar
Risk rs33964317(A,C;A,C)
Alt rs33964317(A,C;A,C)
Reference rs33964317(T;T)
Significance Untested
Disease
Variation info
Gene HBA1
CLNDBN
Reversed 0
HGVS NC_000016.9:g.226758T>A; NC_000016.9:g.226758T>C
CLNSRC
CLNACC


[PMID 6725558OA-icon.png] Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.


[PMID 6882779] Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.


[PMID 15008259] A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.