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rs111033606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033606(C;C)
Make rs111033606(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173125
GeneHBA2
is asnp
is mentioned by
dbSNPrs111033606
dbSNP (classic)rs111033606
ClinGenrs111033606
ebirs111033606
HLIrs111033606
Exacrs111033606
Gnomadrs111033606
Varsomers111033606
LitVarrs111033606
Maprs111033606
PheGenIrs111033606
Biobankrs111033606
1000 genomesrs111033606
hgdprs111033606
ensemblrs111033606
geneviewrs111033606
scholarrs111033606
googlers111033606
pharmgkbrs111033606
gwascentralrs111033606
openSNPrs111033606
23andMers111033606
SNPshotrs111033606
SNPdbers111033606
MSV3drs111033606
GWAS Ctlgrs111033606
Max Magnitude0
OMIM141850
Desc
Variant0055
Relatedalso
ClinVar
Risk rs111033606(C;C) rs111033606(T;T)
Alt rs111033606(C;C) rs111033606(T;T)
Reference Rs111033606(G;G)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223124G>C; NC_000016.9:g.223124G>T
CLNSRC
CLNACC


[PMID 486536] A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).


[PMID 1517104] HB Prato [alpha 31(B12)Arg----Ser] in a Calabrian family.


[PMID 12603094] Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese.