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rs35166721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35166721(A;A)
Make rs35166721(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234176
GeneHBD
is asnp
is mentioned by
dbSNPrs35166721
dbSNP (classic)rs35166721
ClinGenrs35166721
ebirs35166721
HLIrs35166721
Exacrs35166721
Gnomadrs35166721
Varsomers35166721
LitVarrs35166721
Maprs35166721
PheGenIrs35166721
Biobankrs35166721
1000 genomesrs35166721
hgdprs35166721
ensemblrs35166721
geneviewrs35166721
scholarrs35166721
googlers35166721
pharmgkbrs35166721
gwascentralrs35166721
openSNPrs35166721
23andMers35166721
SNPshotrs35166721
SNPdbers35166721
MSV3drs35166721
GWAS Ctlgrs35166721
Max Magnitude0
OMIM142000
Desc
Variant0011
Relatedalso


ClinVar
Risk rs35166721(A;A)
Alt rs35166721(A;A)
Reference Rs35166721(G;G)
Significance Other
Disease HEMOGLOBIN A(2) MELBOURNE
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) MELBOURNE
Reversed 1
HGVS NC_000011.9:g.5255406C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016198.1,



[PMID 4850239] A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).