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rs35849348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35849348(A;A)
Make rs35849348(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5232998
GeneHBD
is asnp
is mentioned by
dbSNPrs35849348
ebirs35849348
HLIrs35849348
Exacrs35849348
Varsomers35849348
Maprs35849348
PheGenIrs35849348
hapmaprs35849348
1000 genomesrs35849348
hgdprs35849348
ensemblrs35849348
gopubmedrs35849348
geneviewrs35849348
scholarrs35849348
googlers35849348
pharmgkbrs35849348
gwascentralrs35849348
openSNPrs35849348
23andMers35849348
23andMe allrs35849348
SNP Nexus

SNPshotrs35849348
SNPdbers35849348
MSV3drs35849348
GWAS Ctlgrs35849348
GMAF0.0009183
Max Magnitude0
OMIM142000
Desc
Variant0003
Relatedalso
? (A;G) (G;G)
ClinVar
Risk rs35849348(A;A)
Alt rs35849348(A;A)
Reference rs35849348(G;G)
Significance Other
Disease HEMOGLOBIN A(2) BABINGA
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) BABINGA
Reversed 1
HGVS NC_000011.9:g.5254228C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016189.1,



[PMID 5678016] Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.


[PMID 5766005] Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro.


[PMID 6207140] Hb A2-Babinga, Hb S, and HPFH in members of a family from Creola, Alabama.