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rs34012192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34012192(C;C)
Make rs34012192(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234385
GeneHBD
is asnp
is mentioned by
dbSNPrs34012192
ebirs34012192
HLIrs34012192
Exacrs34012192
Varsomers34012192
Maprs34012192
PheGenIrs34012192
hapmaprs34012192
1000 genomesrs34012192
hgdprs34012192
ensemblrs34012192
gopubmedrs34012192
geneviewrs34012192
scholarrs34012192
googlers34012192
pharmgkbrs34012192
gwascentralrs34012192
openSNPrs34012192
23andMers34012192
23andMe allrs34012192
SNP Nexus

SNPshotrs34012192
SNPdbers34012192
MSV3drs34012192
GWAS Ctlgrs34012192
GMAF0.0009183
Max Magnitude0
OMIM142000
Desc
Variant0001
Relatedalso


ClinVar
Risk rs34012192(C;C)
Alt rs34012192(C;C)
Reference rs34012192(G;G)
Significance Other
Disease HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2)
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2)
Reversed 1
HGVS NC_000011.9:g.5255615C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016186.1, RCV000016187.1,



[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.


[PMID 5956309] Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine.


[PMID 6058951] Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush.