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rs33949106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33949106(A;C)
Make rs33949106(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177003
GeneHBA1
is asnp
is mentioned by
dbSNPrs33949106
dbSNP (classic)rs33949106
ClinGenrs33949106
ebirs33949106
HLIrs33949106
Exacrs33949106
Gnomadrs33949106
Varsomers33949106
LitVarrs33949106
Maprs33949106
PheGenIrs33949106
Biobankrs33949106
1000 genomesrs33949106
hgdprs33949106
ensemblrs33949106
geneviewrs33949106
scholarrs33949106
googlers33949106
pharmgkbrs33949106
gwascentralrs33949106
openSNPrs33949106
23andMers33949106
SNPshotrs33949106
SNPdbers33949106
MSV3drs33949106
GWAS Ctlgrs33949106
Max Magnitude0
OMIM141800
Desc
Variant0147
Relatedalso
OMIM141800
Desc
Variant0164
Relatedalso
ClinVar
Risk rs33949106(C;C) rs33949106(G;G)
Alt rs33949106(C;C) rs33949106(G;G)
Reference Rs33949106(A;A)
Significance Other
Disease HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON
Reversed 0
HGVS NC_000016.9:g.227002A>C; NC_000016.9:g.227002A>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017166.2, RCV000017185.2,


[PMID 604316] Hemoglobin Thailand [alpha 56 (E 5) Lys leads to Thr]: a new abnormal human hemoglobin.


[PMID 1802882] Hb Port Huron [alpha 56 (E5)Lys----ARG]: a new alpha chain variant.