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rs33947112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33947112(G;T)
Make rs33947112(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249442
GeneHBG1
is asnp
is mentioned by
dbSNPrs33947112
ebirs33947112
HLIrs33947112
Exacrs33947112
Varsomers33947112
Maprs33947112
PheGenIrs33947112
hapmaprs33947112
1000 genomesrs33947112
hgdprs33947112
ensemblrs33947112
gopubmedrs33947112
geneviewrs33947112
scholarrs33947112
googlers33947112
pharmgkbrs33947112
gwascentralrs33947112
openSNPrs33947112
23andMers33947112
23andMe allrs33947112
SNP Nexus

SNPshotrs33947112
SNPdbers33947112
MSV3drs33947112
GWAS Ctlgrs33947112
Max Magnitude0
OMIM142200
Desc
Variant0021
Relatedalso
OMIM142200
Desc
Variant0024
Relatedalso
OMIM142250
Desc
Variant0015
Relatedalso
? (A;G) (G;G)
ClinVar
Risk rs33947112(A,T;A,T)
Alt rs33947112(A,T;A,T)
Reference rs33947112(G;G)
Significance Other
Disease HEMOGLOBIN F (VICTORIA JUBILEE) HEMOGLOBIN F (YAMAGUCHI)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (VICTORIA JUBILEE) HEMOGLOBIN F (YAMAGUCHI)
Reversed 1
HGVS NC_000011.9:g.5270672C>A; NC_000011.9:g.5270672C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016166.1, RCV000016169.1,


[PMID 1138921] Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try).


[PMID 2420697] Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).


[PMID 6163752] Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants.


[PMID 6198905] HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.