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rs34430836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34430836(C;G)
Make rs34430836(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234080
GeneHBD
is asnp
is mentioned by
dbSNPrs34430836
ebirs34430836
HLIrs34430836
Exacrs34430836
Varsomers34430836
Maprs34430836
PheGenIrs34430836
hapmaprs34430836
1000 genomesrs34430836
hgdprs34430836
ensemblrs34430836
gopubmedrs34430836
geneviewrs34430836
scholarrs34430836
googlers34430836
pharmgkbrs34430836
gwascentralrs34430836
openSNPrs34430836
23andMers34430836
23andMe allrs34430836
SNP Nexus

SNPshotrs34430836
SNPdbers34430836
MSV3drs34430836
GWAS Ctlgrs34430836
Max Magnitude0
OMIM142000
Desc
Variant0033
Relatedalso


ClinVar
Risk rs34430836(G;G)
Alt rs34430836(G;G)
Reference rs34430836(C;C)
Significance Other
Disease delta Thalassemia HEMOGLOBIN A(2) GROVETOWN
Variation info
Gene HBD
CLNDBN delta Thalassemia HEMOGLOBIN A(2) GROVETOWN
Reversed 1
HGVS NC_000011.9:g.5255310G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016226.22, RCV000016227.1,



[PMID 8330984] Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.