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rs33950993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33950993(C;T)
Make rs33950993(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226600
GeneHBB
is asnp
is mentioned by
dbSNPrs33950993
ebirs33950993
HLIrs33950993
Exacrs33950993
Varsomers33950993
Maprs33950993
PheGenIrs33950993
hapmaprs33950993
1000 genomesrs33950993
hgdprs33950993
ensemblrs33950993
gopubmedrs33950993
geneviewrs33950993
scholarrs33950993
googlers33950993
pharmgkbrs33950993
gwascentralrs33950993
openSNPrs33950993
23andMers33950993
23andMe allrs33950993
SNP Nexus

SNPshotrs33950993
SNPdbers33950993
MSV3drs33950993
GWAS Ctlgrs33950993
Max Magnitude0
OMIM141900
Desc
Variant0184
Relatedalso
OMIM141900
Desc
Variant0518
Relatedalso
ClinVar
Risk rs33950993(A,T;A,T)
Alt rs33950993(A,T;A,T)
Reference rs33950993(C;C)
Significance Other
Disease HEMOGLOBIN MORIGUCHI HEMOGLOBIN SANTA CLARA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MORIGUCHI HEMOGLOBIN SANTA CLARA
Reversed 1
HGVS NC_000011.9:g.5247830G>A; NC_000011.9:g.5247830G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016500.2, RCV000016874.2,


[PMID 2775360] Hb Moriguchi or alpha 2 beta 2(97) (FG4)His---Tyr substitution at the alpha 1-beta 2 interface.


[PMID 14649314] Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].