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rs1061234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs1061234(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249456
GeneHBG1
is asnp
is mentioned by
dbSNPrs1061234
ebirs1061234
HLIrs1061234
Exacrs1061234
Varsomers1061234
Maprs1061234
PheGenIrs1061234
hapmaprs1061234
1000 genomesrs1061234
hgdprs1061234
ensemblrs1061234
gopubmedrs1061234
geneviewrs1061234
scholarrs1061234
googlers1061234
pharmgkbrs1061234
gwascentralrs1061234
openSNPrs1061234
23andMers1061234
23andMe allrs1061234
SNP Nexus

SNPshotrs1061234
SNPdbers1061234
MSV3drs1061234
GWAS Ctlgrs1061234
Merged fromRs111033586
Max Magnitude0
OMIM142200
DescHBG1 POLYMORPHISM
Variant0001
Relatedalso
OMIM142200
DescHEMOGLOBIN F (SARDINIA)
Variant0018
Relatedalso
OMIM142200
DescHEMOGLOBIN F (CHARLOTTE)
Variant0032
Relatedalso
OMIM142250
DescHEMOGLOBIN F (LESVOS)
Variant0045
Relatedalso
Neighborrs28933078
Distance49
OMIM142200
Desc
Variant0037
Relatedalso
OMIM142250
Desc
Variant0039
Relatedalso


ClinVar
Risk rs1061234(T;T)
Alt rs1061234(T;T)
Reference rs1061234(C;C)
Significance Other
Disease HBG1 POLYMORPHISM HEMOGLOBIN F (CHARLOTTE) HEMOGLOBIN F (PORTO TORRES) HEMOGLOBIN F (SARDINIA)
Variation info
Gene HBG1
CLNDBN HBG1 POLYMORPHISM HEMOGLOBIN F (CHARLOTTE) HEMOGLOBIN F (PORTO TORRES) HEMOGLOBIN F (SARDINIA)
Reversed 1
HGVS NC_000011.9:g.5270686G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016145.2, RCV000016180.1, RCV000016185.2, RCV000030904.1,



GET Evidence
HBG1-T76I
aa_change Thr76Ile
aa_change_short T76I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.359588
summary