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rs33918474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33918474(A;A)
Make rs33918474(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226960
GeneHBB
is asnp
is mentioned by
dbSNPrs33918474
ebirs33918474
HLIrs33918474
Exacrs33918474
Varsomers33918474
Maprs33918474
PheGenIrs33918474
hapmaprs33918474
1000 genomesrs33918474
hgdprs33918474
ensemblrs33918474
gopubmedrs33918474
geneviewrs33918474
scholarrs33918474
googlers33918474
pharmgkbrs33918474
gwascentralrs33918474
openSNPrs33918474
23andMers33918474
23andMe allrs33918474
SNP Nexus

SNPshotrs33918474
SNPdbers33918474
MSV3drs33918474
GWAS Ctlgrs33918474
Max Magnitude0
OMIM141900
Desc
Variant0450
Relatedalso
ClinVar
Risk rs33918474(A,G;A,G)
Alt rs33918474(A,G;A,G)
Reference rs33918474(T;T)
Significance Other
Disease HEMOGLOBIN TROLLHAETTAN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TROLLHAETTAN
Reversed 1
HGVS NC_000011.9:g.5248190A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016805.2,


[PMID 7914875] Hb Trollhattan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis.


[PMID 8936460] Hb Uxbridge [beta 20 (B2)Val-->Gly]: a new variant with mild increase in oxygen affinity found during a neonatal screening program.