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rs35351128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35351128(A;C)
Make rs35351128(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226624
GeneHBB
is asnp
is mentioned by
dbSNPrs35351128
dbSNP (classic)rs35351128
ClinGenrs35351128
ebirs35351128
HLIrs35351128
Exacrs35351128
Gnomadrs35351128
Varsomers35351128
LitVarrs35351128
Maprs35351128
PheGenIrs35351128
Biobankrs35351128
1000 genomesrs35351128
hgdprs35351128
ensemblrs35351128
geneviewrs35351128
scholarrs35351128
googlers35351128
pharmgkbrs35351128
gwascentralrs35351128
openSNPrs35351128
23andMers35351128
SNPshotrs35351128
SNPdbers35351128
MSV3drs35351128
GWAS Ctlgrs35351128
Max Magnitude0
OMIM141900
Desc
Variant0292
Relatedalso


ClinVar
Risk rs35351128(C;C)
Alt rs35351128(C;C)
Reference Rs35351128(A;A)
Significance Other
Disease HEMOGLOBIN VANDERBILT
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VANDERBILT
Reversed 1
HGVS NC_000011.9:g.5247854T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016635.2,



[PMID 678476] Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis.