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rs34751764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34751764(C;C)
Make rs34751764(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176732
GeneHBA1
is asnp
is mentioned by
dbSNPrs34751764
dbSNP (classic)rs34751764
ClinGenrs34751764
ebirs34751764
HLIrs34751764
Exacrs34751764
Gnomadrs34751764
Varsomers34751764
LitVarrs34751764
Maprs34751764
PheGenIrs34751764
Biobankrs34751764
1000 genomesrs34751764
hgdprs34751764
ensemblrs34751764
geneviewrs34751764
scholarrs34751764
googlers34751764
pharmgkbrs34751764
gwascentralrs34751764
openSNPrs34751764
23andMers34751764
SNPshotrs34751764
SNPdbers34751764
MSV3drs34751764
GWAS Ctlgrs34751764
Max Magnitude0
OMIM141800
Desc
Variant0080
Relatedalso
ClinVar
Risk rs34751764(C;C)
Alt rs34751764(C;C)
Reference Rs34751764(G;G)
Significance Other
Disease HEMOGLOBIN KARACHI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN KARACHI
Reversed 0
HGVS NC_000016.9:g.226731G>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017078.2,


[PMID 3097343] Abnormal hemoglobins 11-Hb (Karachi), an alpha chain abnormality at position 5 Ala----Pro.