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rs33970907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33970907(A;G)
Make rs33970907(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249737
GeneHBG1
is asnp
is mentioned by
dbSNPrs33970907
dbSNP (classic)rs33970907
ClinGenrs33970907
ebirs33970907
HLIrs33970907
Exacrs33970907
Gnomadrs33970907
Varsomers33970907
LitVarrs33970907
Maprs33970907
PheGenIrs33970907
Biobankrs33970907
1000 genomesrs33970907
hgdprs33970907
ensemblrs33970907
geneviewrs33970907
scholarrs33970907
googlers33970907
pharmgkbrs33970907
gwascentralrs33970907
openSNPrs33970907
23andMers33970907
SNPshotrs33970907
SNPdbers33970907
MSV3drs33970907
GWAS Ctlgrs33970907
Max Magnitude0
OMIM142200
Desc
Variant0015
Relatedalso
OMIM142250
Desc
Variant0024
Relatedalso
OMIM142250
Desc
Variant0029
Relatedalso
ClinVar
Risk rs33970907(G;G) rs33970907(T;T)
Alt rs33970907(G;G) rs33970907(T;T)
Reference Rs33970907(A;A)
Significance Other
Disease HEMOGLOBIN F (KUALA LUMPUR)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (KUALA LUMPUR)
Reversed 1
HGVS NC_000011.9:g.5270967T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016159.3,


[PMID 4765089] Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala.