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rs35993655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs35993655(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177371
GeneHBA1
is asnp
is mentioned by
dbSNPrs35993655
dbSNP (classic)rs35993655
ClinGenrs35993655
ebirs35993655
HLIrs35993655
Exacrs35993655
Gnomadrs35993655
Varsomers35993655
LitVarrs35993655
Maprs35993655
PheGenIrs35993655
Biobankrs35993655
1000 genomesrs35993655
hgdprs35993655
ensemblrs35993655
geneviewrs35993655
scholarrs35993655
googlers35993655
pharmgkbrs35993655
gwascentralrs35993655
openSNPrs35993655
23andMers35993655
SNPshotrs35993655
SNPdbers35993655
MSV3drs35993655
GWAS Ctlgrs35993655
Max Magnitude3
OMIM141800
Desc
Variant0191
Relatedalso
ClinVar
Risk rs35993655(C;C)
Alt rs35993655(C;C)
Reference Rs35993655(T;T)
Significance Other
Disease HEMOGLOBIN TUNIS-BIZERTE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TUNIS-BIZERTE
Reversed 0
HGVS NC_000016.9:g.227370T>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017211.2,


[PMID 7786798] Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype.