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rs35068498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35068498(A;G)
Make rs35068498(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226620
GeneHBB
is asnp
is mentioned by
dbSNPrs35068498
dbSNP (classic)rs35068498
ClinGenrs35068498
ebirs35068498
HLIrs35068498
Exacrs35068498
Gnomadrs35068498
Varsomers35068498
LitVarrs35068498
Maprs35068498
PheGenIrs35068498
Biobankrs35068498
1000 genomesrs35068498
hgdprs35068498
ensemblrs35068498
geneviewrs35068498
scholarrs35068498
googlers35068498
pharmgkbrs35068498
gwascentralrs35068498
openSNPrs35068498
23andMers35068498
SNPshotrs35068498
SNPdbers35068498
MSV3drs35068498
GWAS Ctlgrs35068498
Max Magnitude0
OMIM141900
Desc
Variant0240
Relatedalso


ClinVar
Risk rs35068498(G;G)
Alt rs35068498(G;G)
Reference Rs35068498(A;A)
Significance Other
Disease HEMOGLOBIN ROSEAU-POINTE A PITRE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ROSEAU-POINTE A PITRE
Reversed 1
HGVS NC_000011.9:g.5247850T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016570.2,



[PMID 3838727] Hemoglobin Roseau-Pointe a Pitre alpha 2 beta 2(90) (F6) Glu----Gly: a new hemoglobin variant with slight instability and low oxygen affinity.