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rs35685286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35685286(A;A)
Make rs35685286(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226933
GeneHBB
is asnp
is mentioned by
dbSNPrs35685286
dbSNP (classic)rs35685286
ClinGenrs35685286
ebirs35685286
HLIrs35685286
Exacrs35685286
Gnomadrs35685286
Varsomers35685286
LitVarrs35685286
Maprs35685286
PheGenIrs35685286
Biobankrs35685286
1000 genomesrs35685286
hgdprs35685286
ensemblrs35685286
geneviewrs35685286
scholarrs35685286
googlers35685286
pharmgkbrs35685286
gwascentralrs35685286
openSNPrs35685286
23andMers35685286
SNPshotrs35685286
SNPdbers35685286
MSV3drs35685286
GWAS Ctlgrs35685286
Max Magnitude0
OMIM141900
Desc
Variant0161
Relatedalso


ClinVar
Risk rs35685286(A;A)
Alt rs35685286(A;A)
Reference Rs35685286(G;G)
Significance Other
Disease HEMOGLOBIN LUFKIN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LUFKIN
Reversed 1
HGVS NC_000011.9:g.5248163C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016460.2,



[PMID 24022] Hemoglobin Lufkin: beta 29 (B11) Gly replaced by Asp. An unstable hemoglobin variant involving an internal amino acid residue.


[PMID 8537234] Hb S-Hb Lufkin disease in a black male infant.