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rs35485099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35485099(A;A)
Make rs35485099(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225695
GeneHBB
is asnp
is mentioned by
dbSNPrs35485099
ebirs35485099
HLIrs35485099
Exacrs35485099
Varsomers35485099
Maprs35485099
PheGenIrs35485099
hapmaprs35485099
1000 genomesrs35485099
hgdprs35485099
ensemblrs35485099
gopubmedrs35485099
geneviewrs35485099
scholarrs35485099
googlers35485099
pharmgkbrs35485099
gwascentralrs35485099
openSNPrs35485099
23andMers35485099
23andMe allrs35485099
SNP Nexus

SNPshotrs35485099
SNPdbers35485099
MSV3drs35485099
GWAS Ctlgrs35485099
Max Magnitude0
OMIM141900
Desc
Variant0437
Relatedalso


ClinVar
Risk rs35485099(A,T;A,T)
Alt rs35485099(A,T;A,T)
Reference rs35485099(C;C)
Significance Pathogenic
Disease Hemoglobinopathy
Variation info
Gene HBB
CLNDBN Hemoglobinopathy
Reversed 1
HGVS NC_000011.9:g.5246925G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016791.3,



[PMID 7693620] Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.


[PMID 19900509] A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val].