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rs34667595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in complete genomics
Make rs34667595(-;GAA)
Make rs34667595(GAA;GAA)
ReferenceGRCh38 38.1/141
Chromosome16
Position176947
GeneHBA1
is asnp
is mentioned by
dbSNPrs34667595
ebirs34667595
HLIrs34667595
Exacrs34667595
Varsomers34667595
Maprs34667595
PheGenIrs34667595
hapmaprs34667595
1000 genomesrs34667595
hgdprs34667595
ensemblrs34667595
gopubmedrs34667595
geneviewrs34667595
scholarrs34667595
googlers34667595
pharmgkbrs34667595
gwascentralrs34667595
openSNPrs34667595
23andMers34667595
23andMe allrs34667595
SNP Nexus

SNPshotrs34667595
SNPdbers34667595
MSV3drs34667595
GWAS Ctlgrs34667595
Max Magnitude0
OMIM141800
Desc
Variant0015
Relatedalso


ClinVar
Risk rs34667595(GAA;GAA)
Alt rs34667595(GAA;GAA)
Reference rs34667595(;)
Significance Other
Disease HEMOGLOBIN CATONSVILLE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN CATONSVILLE
Reversed 0
HGVS NC_000016.9:g.226946_226947insGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000017002.2,



[PMID 2574721] Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?