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

rs35433207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35433207(A;G)
Make rs35433207(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234426
GeneHBD
is asnp
is mentioned by
dbSNPrs35433207
dbSNP (classic)rs35433207
ClinGenrs35433207
ebirs35433207
HLIrs35433207
Exacrs35433207
Gnomadrs35433207
Varsomers35433207
LitVarrs35433207
Maprs35433207
PheGenIrs35433207
Biobankrs35433207
1000 genomesrs35433207
hgdprs35433207
ensemblrs35433207
geneviewrs35433207
scholarrs35433207
googlers35433207
pharmgkbrs35433207
gwascentralrs35433207
openSNPrs35433207
23andMers35433207
SNPshotrs35433207
SNPdbers35433207
MSV3drs35433207
GWAS Ctlgrs35433207
Max Magnitude0
OMIM142000
Desc
Variant0014
Relatedalso


ClinVar
Risk rs35433207(G;G) rs35433207(T;T)
Alt rs35433207(G;G) rs35433207(T;T)
Reference Rs35433207(A;A)
Significance Other
Disease HEMOGLOBIN A(2) SPHAKIA
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) SPHAKIA
Reversed 1
HGVS NC_000011.9:g.5255656T>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016202.1,



[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.


[PMID 5909792] Hemoglobin Sphakia: a delta-chain variant of hemoglobin A2 from Crete.


[PMID 17145605] Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.