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rs35203747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35203747(A;A)
Make rs35203747(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226981
GeneHBB
is asnp
is mentioned by
dbSNPrs35203747
dbSNP (classic)rs35203747
ClinGenrs35203747
ebirs35203747
HLIrs35203747
Exacrs35203747
Gnomadrs35203747
Varsomers35203747
LitVarrs35203747
Maprs35203747
PheGenIrs35203747
Biobankrs35203747
1000 genomesrs35203747
hgdprs35203747
ensemblrs35203747
geneviewrs35203747
scholarrs35203747
googlers35203747
pharmgkbrs35203747
gwascentralrs35203747
openSNPrs35203747
23andMers35203747
SNPshotrs35203747
SNPdbers35203747
MSV3drs35203747
GWAS Ctlgrs35203747
Max Magnitude0
OMIM141900
Desc
Variant0133
Relatedalso


ClinVar
Risk rs35203747(A;A)
Alt rs35203747(A;A)
Reference Rs35203747(C;C)
Significance Other
Disease HEMOGLOBIN J (LENS)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (LENS)
Reversed 1
HGVS NC_000011.9:g.5248211G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016420.2,



[PMID 7319057] Structural studies of a new hemoglobin: HbJ lens, beta 13(A10) Ala leads to Asp.