Have questions? Visit https://www.reddit.com/r/SNPedia

rs34536353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34536353(A;A)
Make rs34536353(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233058
GeneHBD
is asnp
is mentioned by
dbSNPrs34536353
dbSNP (classic)rs34536353
ClinGenrs34536353
ebirs34536353
HLIrs34536353
Exacrs34536353
Gnomadrs34536353
Varsomers34536353
LitVarrs34536353
Maprs34536353
PheGenIrs34536353
Biobankrs34536353
1000 genomesrs34536353
hgdprs34536353
ensemblrs34536353
geneviewrs34536353
scholarrs34536353
googlers34536353
pharmgkbrs34536353
gwascentralrs34536353
openSNPrs34536353
23andMers34536353
SNPshotrs34536353
SNPdbers34536353
MSV3drs34536353
GWAS Ctlgrs34536353
Max Magnitude0
OMIM142000
Desc
Variant0005
Relatedalso


ClinVar
Risk rs34536353(A;A)
Alt rs34536353(A;A)
Reference Rs34536353(G;G)
Significance Other
Disease HEMOGLOBIN A(2) COBURG
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) COBURG
Reversed 1
HGVS NC_000011.9:g.5254288C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016191.1,



[PMID 1148221] Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).