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rs35699671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTG;GTG) 0 common in complete genomics
(TGG;TGG) 0 common in clinvar
Make rs35699671(-;-)
Make rs35699671(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226790
GeneHBB
is asnp
is mentioned by
dbSNPrs35699671
ebirs35699671
HLIrs35699671
Exacrs35699671
Varsomers35699671
Maprs35699671
PheGenIrs35699671
hapmaprs35699671
1000 genomesrs35699671
hgdprs35699671
ensemblrs35699671
gopubmedrs35699671
geneviewrs35699671
scholarrs35699671
googlers35699671
pharmgkbrs35699671
gwascentralrs35699671
openSNPrs35699671
23andMers35699671
23andMe allrs35699671
SNP Nexus

SNPshotrs35699671
SNPdbers35699671
MSV3drs35699671
GWAS Ctlgrs35699671
Max Magnitude0
OMIM141900
Desc
Variant0443
Relatedalso
ClinVar
Risk rs35699671(;)
Alt rs35699671(;)
Reference rs35699671(GGT;GGT)
Significance Other
Disease HEMOGLOBIN KOREA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KOREA
Reversed 1
HGVS NC_000011.9:g.5248020_5248022delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016797.2,


[PMID 1911355] A spontaneous deletion of beta 33/34 Val in exon 2 of the beta globin gene (Hb Korea) produces the phenotype of dominant beta thalassaemia.


[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.