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rs76728603

From SNPedia

Merged intors11549407
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
Make rs76728603(A;A)
Make rs76728603(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226774
GeneHBB
is asnp
is mentioned by
dbSNPrs76728603
ebirs76728603
HLIrs76728603
Exacrs76728603
Varsomers76728603
Maprs76728603
PheGenIrs76728603
hapmaprs76728603
1000 genomesrs76728603
hgdprs76728603
ensemblrs76728603
gopubmedrs76728603
geneviewrs76728603
scholarrs76728603
googlers76728603
pharmgkbrs76728603
gwascentralrs76728603
openSNPrs76728603
23andMers76728603
23andMe allrs76728603
SNP Nexus

SNPshotrs76728603
SNPdbers76728603
MSV3drs76728603
GWAS Ctlgrs76728603
StatusMerged into rs11549407
Max Magnitude0
OMIM141900
Desc
Variant0004
Relatedalso
OMIM141900
Desc
Variant0290
Relatedalso
OMIM141900
Desc
Variant0312
Relatedalso

[PMID 1115799] Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).


[PMID 893132] Hb Vaasa or alpha2beta2 (39(C5)Gln replaced by Glu), a mildly unstable variant found in a Finnish family.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 6457059OA-icon.png] beta zero thalassemia in Sardinia is caused by a nonsense mutation.


[PMID 6985481] Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.