Have questions? Visit https://www.reddit.com/r/SNPedia

rs33936254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33936254(A;C)
Make rs33936254(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226954
GeneHBB
is asnp
is mentioned by
dbSNPrs33936254
ebirs33936254
HLIrs33936254
Exacrs33936254
Varsomers33936254
Maprs33936254
PheGenIrs33936254
hapmaprs33936254
1000 genomesrs33936254
hgdprs33936254
ensemblrs33936254
gopubmedrs33936254
geneviewrs33936254
scholarrs33936254
googlers33936254
pharmgkbrs33936254
gwascentralrs33936254
openSNPrs33936254
23andMers33936254
23andMe allrs33936254
SNP Nexus

SNPshotrs33936254
SNPdbers33936254
MSV3drs33936254
GWAS Ctlgrs33936254
Max Magnitude0
OMIM141900
Desc
Variant0061
Relatedalso
OMIM141900
Desc
Variant0081
Relatedalso
OMIM141900
Desc
Variant0088
Relatedalso
ClinVar
Risk rs33936254(C,G,T;C,G,T)
Alt rs33936254(C,G,T;C,G,T)
Reference rs33936254(A;A)
Significance Other
Disease HEMOGLOBIN D (GRANADA) HEMOGLOBIN G (TAIPEI) HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON) HEMOGLOBIN G (HSIN-CHU) HEMOGLOBIN G (TAEGU) beta Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN D (GRANADA) HEMOGLOBIN G (TAIPEI) HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON) HEMOGLOBIN G (HSIN-CHU) HEMOGLOBIN G (TAEGU) beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248184T>A; NC_000011.9:g.5248184T>C; NC_000011.9:g.5248184T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016312.2, RCV000016356.2, RCV000016343.2, RCV000016344.2, RCV000016345.2, RCV000016346.2, RCV000030001.1,


[PMID 140] Regulation and properties of an invertase from Clostridium pasteurianum.


[PMID 721611] Occurrence of hemoglobin G Coushatta in Japan.


[PMID 2265836] Abnormal hemoglobins in the Silk Road region of China.


[PMID 2703366] Hb G-Coushatta or alpha 2 beta 222(B4)Glu----Ala in a Turkish male.


[PMID 5658717] Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala.


[PMID 5791015] Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala.


[PMID 9048934] Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population. [PMID 3623978] Hb G-Taipei or beta 22(B4)Glu----Gly in a Chinese family living in The Netherlands.


[PMID 6021187] Hemoglobin G Saskatoon: beta-22Glu--Ala.


[PMID 10081986] Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala].


[PMID 3446652] Hb D-Granada or alpha 2 beta 2 22(B4)Glu----Val.