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rs34936612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34936612(C;G)
Make rs34936612(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177078
GeneHBA1
is asnp
is mentioned by
dbSNPrs34936612
dbSNP (classic)rs34936612
ClinGenrs34936612
ebirs34936612
HLIrs34936612
Exacrs34936612
Gnomadrs34936612
Varsomers34936612
LitVarrs34936612
Maprs34936612
PheGenIrs34936612
Biobankrs34936612
1000 genomesrs34936612
hgdprs34936612
ensemblrs34936612
geneviewrs34936612
scholarrs34936612
googlers34936612
pharmgkbrs34936612
gwascentralrs34936612
openSNPrs34936612
23andMers34936612
SNPshotrs34936612
SNPdbers34936612
MSV3drs34936612
GWAS Ctlgrs34936612
Max Magnitude0
OMIM141800
Desc
Variant0105
Relatedalso
ClinVar
Risk rs34936612(G;G)
Alt rs34936612(G;G)
Reference Rs34936612(C;C)
Significance Other
Disease HEMOGLOBIN NIGERIA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN NIGERIA
Reversed 0
HGVS NC_000016.9:g.227077C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017119.2,


[PMID 7350933] Hemoglobin Nigeria (alpha-81 Ser replaced by Cys):a new variant associated with alpha-thalassemia.