Have questions? Visit https://www.reddit.com/r/SNPedia

rs33954632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33954632(A;A)
Make rs33954632(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226939
GeneHBB
is asnp
is mentioned by
dbSNPrs33954632
ClinGenrs33954632
ebirs33954632
HLIrs33954632
Exacrs33954632
Varsomers33954632
Maprs33954632
PheGenIrs33954632
hapmaprs33954632
1000 genomesrs33954632
hgdprs33954632
ensemblrs33954632
gopubmedrs33954632
geneviewrs33954632
scholarrs33954632
googlers33954632
pharmgkbrs33954632
gwascentralrs33954632
openSNPrs33954632
23andMers33954632
23andMe allrs33954632
SNP Nexus

SNPshotrs33954632
SNPdbers33954632
MSV3drs33954632
GWAS Ctlgrs33954632
Max Magnitude0
OMIM141900
Desc
Variant0094
Relatedalso
OMIM141900
Desc
Variant0295
Relatedalso


ClinVar
Risk rs33954632(A;A) rs33954632(G;G) rs33954632(T;T)
Alt rs33954632(A;A) rs33954632(G;G) rs33954632(T;T)
Reference Rs33954632(C;C)
Significance Other
Disease HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE
Reversed 1
HGVS NC_000011.9:g.5248169G>A; NC_000011.9:g.5248169G>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016364.2, RCV000016638.2, RCV000016639.2,



[PMID 952960] Hb-Volga or alpha 2 beta 2 27(B9)Ala replaced by Asp. An unstable hemoglobin variant in three generations of a Dutch family.


[PMID 1225571] Haemoglobin Volga, beta27, (B9) Ala leads to Asp, a new highly unstable haemoglobin with a suppressed charge.


[PMID 3666141] Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen.


[PMID 9415844] Hb Siirt [beta 27(B9)Ala-->Gly]: a new, electrophoretically silent, hemoglobin variant.