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rs35329985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35329985(A;A)
Make rs35329985(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234008
GeneHBD
is asnp
is mentioned by
dbSNPrs35329985
dbSNP (classic)rs35329985
ClinGenrs35329985
ebirs35329985
HLIrs35329985
Exacrs35329985
Gnomadrs35329985
Varsomers35329985
LitVarrs35329985
Maprs35329985
PheGenIrs35329985
Biobankrs35329985
1000 genomesrs35329985
hgdprs35329985
ensemblrs35329985
geneviewrs35329985
scholarrs35329985
googlers35329985
pharmgkbrs35329985
gwascentralrs35329985
openSNPrs35329985
23andMers35329985
SNPshotrs35329985
SNPdbers35329985
MSV3drs35329985
GWAS Ctlgrs35329985
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM142000
Desc
Variant0004
Relatedalso


ClinVar
Risk rs35329985(A;A)
Alt rs35329985(A;A)
Reference Rs35329985(G;G)
Significance Other
Disease HEMOGLOBIN A(2) CANADA
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) CANADA
Reversed 1
HGVS NC_000011.9:g.5255238C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016190.1,



[PMID 7129931] Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.