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rs35850071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35850071(C;T)
Make rs35850071(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176727
GeneHBA1
is asnp
is mentioned by
dbSNPrs35850071
dbSNP (classic)rs35850071
ClinGenrs35850071
ebirs35850071
HLIrs35850071
Exacrs35850071
Gnomadrs35850071
Varsomers35850071
LitVarrs35850071
Maprs35850071
PheGenIrs35850071
Biobankrs35850071
1000 genomesrs35850071
hgdprs35850071
ensemblrs35850071
geneviewrs35850071
scholarrs35850071
googlers35850071
pharmgkbrs35850071
gwascentralrs35850071
openSNPrs35850071
23andMers35850071
SNPshotrs35850071
SNPdbers35850071
MSV3drs35850071
GWAS Ctlgrs35850071
Max Magnitude0
OMIM141800
Desc
Variant0205
Relatedalso
ClinVar
Risk rs35850071(T;T)
Alt rs35850071(T;T)
Reference Rs35850071(C;C)
Significance Other
Disease HEMOGLOBIN DOUALA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN DOUALA
Reversed 0
HGVS NC_000016.9:g.226726C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017224.2,


[PMID 11570726] Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.