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rs33961886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33961886(A;A)
Make rs33961886(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226735
GeneHBB
is asnp
is mentioned by
dbSNPrs33961886
ebirs33961886
HLIrs33961886
Exacrs33961886
Varsomers33961886
Maprs33961886
PheGenIrs33961886
hapmaprs33961886
1000 genomesrs33961886
hgdprs33961886
ensemblrs33961886
gopubmedrs33961886
geneviewrs33961886
scholarrs33961886
googlers33961886
pharmgkbrs33961886
gwascentralrs33961886
openSNPrs33961886
23andMers33961886
23andMe allrs33961886
SNP Nexus

SNPshotrs33961886
SNPdbers33961886
MSV3drs33961886
GWAS Ctlgrs33961886
Max Magnitude0
OMIM141900
Desc
Variant0212
Relatedalso
OMIM141900
Desc
Variant0272
Relatedalso
OMIM141900
Desc
Variant0408
Relatedalso
ClinVar
Risk rs33961886(A,C,T;A,C,T)
Alt rs33961886(A,C,T;A,C,T)
Reference rs33961886(G;G)
Significance Other
Disease HEMOGLOBIN SUMMER HILL not specified HEMOGLOBIN GRENOBLE beta Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SUMMER HILL not specified HEMOGLOBIN GRENOBLE beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247965C>G; NC_000011.9:g.5247965C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016613.2, RCV000016537.3, RCV000016759.2, RCV000029964.2,


[PMID 640855] Hemoglobin Osu-Christiansborg (beta52 (D3) Aspyield Asn) in an Iranian family.


[PMID 5097135OA-icon.png] Haemoglobin Osu-Christiansborg: a new beta-chain variant of haemoglobin A ( beta52 (D3) aspartic acid leads to asparagine) in combination with haemoglobin S.


[PMID 10335988] Haplotype analysis of two new, independent cases of Hb Osu-Christiansborg.


[PMID 15008267] Hb Osu-Christiansborg [beta52(D3)Asp --> Asn]: a de novo mutation in Brazil.


[PMID 16178917] Falsely high glycated haemoglobin [HbA1C] because of haemoglobin OSU-Christiansborg.


[PMID 18932067] Carrier screening and prenatal diagnosis of hemoglobinopathies. A study of indigenous and immigrant couples in northern Greece, over the last 5 years. [PMID 6629828] Hb Summer Hill or alpha 2 beta 2(52)(D3)Asp replaced by His in a Turkish family from Cyprus.