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rs1803195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1803195(A;A)
Make rs1803195(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226641
GeneHBB
is asnp
is mentioned by
dbSNPrs1803195
ebirs1803195
HLIrs1803195
Exacrs1803195
Varsomers1803195
Maprs1803195
PheGenIrs1803195
hapmaprs1803195
1000 genomesrs1803195
hgdprs1803195
ensemblrs1803195
gopubmedrs1803195
geneviewrs1803195
scholarrs1803195
googlers1803195
pharmgkbrs1803195
gwascentralrs1803195
openSNPrs1803195
23andMers1803195
23andMe allrs1803195
SNP Nexus

SNPshotrs1803195
SNPdbers1803195
MSV3drs1803195
GWAS Ctlgrs1803195
Max Magnitude0
OMIM141900
Desc
Variant0182
Relatedalso
OMIM141900
Desc
Variant0228
Relatedalso
ClinVar
Risk rs1803195(A,T;A,T)
Alt rs1803195(A,T;A,T)
Reference rs1803195(G;G)
Significance Other
Disease HEMOGLOBIN PYRGOS
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PYRGOS
Reversed 1
HGVS NC_000011.9:g.5247871C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016560.3,


[PMID 1260137] Hemoglobin pyrgos alpha2 beta2 83 (EF7) Gly leads to Asp: a new hemoglobin variant in double heterozygosity with hemoglobin S.


[PMID 1802885] Six rare hemoglobin variants found in Sicily.


[PMID 9640611] Molecular and hematological characterization of Hb Tak and Hb Pyrgos in Thailand.


[PMID 12144064] Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.