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rs34977235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34977235(A;T)
Make rs34977235(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234163
GeneHBD
is asnp
is mentioned by
dbSNPrs34977235
dbSNP (classic)rs34977235
ClinGenrs34977235
ebirs34977235
HLIrs34977235
Exacrs34977235
Gnomadrs34977235
Varsomers34977235
LitVarrs34977235
Maprs34977235
PheGenIrs34977235
Biobankrs34977235
1000 genomesrs34977235
hgdprs34977235
ensemblrs34977235
geneviewrs34977235
scholarrs34977235
googlers34977235
pharmgkbrs34977235
gwascentralrs34977235
openSNPrs34977235
23andMers34977235
SNPshotrs34977235
SNPdbers34977235
MSV3drs34977235
GWAS Ctlgrs34977235
Max Magnitude0
OMIM142000
Desc
Variant0025
Relatedalso


ClinVar
Risk rs34977235(T;T)
Alt rs34977235(T;T)
Reference Rs34977235(A;A)
Significance Other
Disease HEMOGLOBIN A(2) PARKVILLE
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) PARKVILLE
Reversed 1
HGVS NC_000011.9:g.5255393T>A
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016218.1,



[PMID 1802883] Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant.