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rs33935445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33935445(C;C)
Make rs33935445(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226978
GeneHBB
is asnp
is mentioned by
dbSNPrs33935445
ebirs33935445
HLIrs33935445
Exacrs33935445
Varsomers33935445
Maprs33935445
PheGenIrs33935445
hapmaprs33935445
1000 genomesrs33935445
hgdprs33935445
ensemblrs33935445
gopubmedrs33935445
geneviewrs33935445
scholarrs33935445
googlers33935445
pharmgkbrs33935445
gwascentralrs33935445
openSNPrs33935445
23andMers33935445
23andMe allrs33935445
SNP Nexus

SNPshotrs33935445
SNPdbers33935445
MSV3drs33935445
GWAS Ctlgrs33935445
Max Magnitude0
OMIM141900
Desc
Variant0251
Relatedalso
OMIM141900
Desc
Variant0264
Relatedalso
ClinVar
Risk rs33935445(C,G;C,G)
Alt rs33935445(C,G;C,G)
Reference rs33935445(T;T)
Significance Other
Disease HEMOGLOBIN SOGN HEMOGLOBIN SAKI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SOGN HEMOGLOBIN SAKI
Reversed 1
HGVS NC_000011.9:g.5248208A>C; NC_000011.9:g.5248208A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016604.2, RCV000016584.2,


[PMID 2366586] Two families with hemoglobin Sogn, beta(A11)14 Leu----Arg, in Minnesota and Indiana: hematologic, functional, and biosynthetic features.


[PMID 4994348] Hb Sogn (beta 14 arginine). Haematological and genetical studies.


[PMID 5710451] Haemoglobin Sogn (beta 14 arginine) a new haemoglobin variant.


[PMID 8811316] Hb Sogn or alpha 2 beta 2 14(A11)Leu-->Arg in combination with an alpha-thalassemia heterozygosity.


[PMID 237566] Haemoglobin Saki alpha 2 beta 2 14 Leu-Pro(a11) structure and function.


[PMID 998617] Thalassemia intermedia caused by heterozygosity for both beta-thalassemia and hemoglobin Saki [beta 14 (A11) Leu replaced by Pro].