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rs41461652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41461652(C;G)
Make rs41461652(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173180
GeneHBA2
is asnp
is mentioned by
dbSNPrs41461652
ebirs41461652
HLIrs41461652
Exacrs41461652
Varsomers41461652
Maprs41461652
PheGenIrs41461652
hapmaprs41461652
1000 genomesrs41461652
hgdprs41461652
ensemblrs41461652
gopubmedrs41461652
geneviewrs41461652
scholarrs41461652
googlers41461652
pharmgkbrs41461652
gwascentralrs41461652
openSNPrs41461652
23andMers41461652
23andMe allrs41461652
SNP Nexus

SNPshotrs41461652
SNPdbers41461652
MSV3drs41461652
GWAS Ctlgrs41461652
Max Magnitude0
OMIM141850
Desc
Variant0036
Relatedalso


ClinVar
Risk rs41461652(G,T;G,T)
Alt rs41461652(G,T;G,T)
Reference rs41461652(C;C)
Significance Other
Disease HEMOGLOBIN J (SARDEGNA)
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN J (SARDEGNA)
Reversed 0
HGVS NC_000016.9:g.223179C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016947.1,



[PMID 4625462] A case of haemoglobin J Sardegna- -thalassaemia double heterozygosis.


[PMID 5649699] Haemoglobin J Sardegna: alpha 50(CD 8) histidine -aspartic acid.


[PMID 5801827] A new haemoglobin: Hb J Sardegna (alpha50 histidine--aspartic acid).


[PMID 6155159] Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).


[PMID 9895333] Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp].


[PMID 10657257OA-icon.png] Adult and fetal haemoglobin J-Sardegna [alpha50(CE8)His-->Asp]: functional and molecular modelling studies.