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rs34948328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GA;GA) 0 common in clinvar
Make rs34948328(A;A)
Make rs34948328(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227000
GeneHBB
is asnp
is mentioned by
dbSNPrs34948328
ebirs34948328
HLIrs34948328
Exacrs34948328
Varsomers34948328
Maprs34948328
PheGenIrs34948328
hapmaprs34948328
1000 genomesrs34948328
hgdprs34948328
ensemblrs34948328
gopubmedrs34948328
geneviewrs34948328
scholarrs34948328
googlers34948328
pharmgkbrs34948328
gwascentralrs34948328
openSNPrs34948328
23andMers34948328
23andMe allrs34948328
SNP Nexus

SNPshotrs34948328
SNPdbers34948328
MSV3drs34948328
GWAS Ctlgrs34948328
Merged fromRs121909819
Max Magnitude0
OMIM141900
Desc
Variant0263
Relatedalso
ClinVar
Risk rs34948328(A,C;A,C)
Alt rs34948328(A,C;A,C)
Reference rs34948328(G;G)
Significance Pathogenic
Disease not specified
Variation info
Gene HBB
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.5248230C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016602.3,


[PMID 5077741] Haemoglobin Siriraj, -7 ( A4) Glu leads to Lys, in a Chinese subject in Taiwan.