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rs35816645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35816645(C;C)
Make rs35816645(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176762
GeneHBA1
is asnp
is mentioned by
dbSNPrs35816645
dbSNP (classic)rs35816645
ClinGenrs35816645
ebirs35816645
HLIrs35816645
Exacrs35816645
Gnomadrs35816645
Varsomers35816645
LitVarrs35816645
Maprs35816645
PheGenIrs35816645
Biobankrs35816645
1000 genomesrs35816645
hgdprs35816645
ensemblrs35816645
geneviewrs35816645
scholarrs35816645
googlers35816645
pharmgkbrs35816645
gwascentralrs35816645
openSNPrs35816645
23andMers35816645
SNPshotrs35816645
SNPdbers35816645
MSV3drs35816645
GWAS Ctlgrs35816645
Max Magnitude0
OMIM141800
Desc
Variant0114
Relatedalso
ClinVar
Risk rs35816645(C;C) rs35816645(T;T)
Alt rs35816645(C;C) rs35816645(T;T)
Reference Rs35816645(G;G)
Significance Other
Disease HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM
Reversed 0
HGVS NC_000016.9:g.226761G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017136.2, RCV000017137.2,


[PMID 4135957] Hemoglobin Siam (alpha 2 15 arg beta 2): a new alpha-chain variant.


[PMID 11939517] Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect.