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rs41328049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41328049(C;C)
Make rs41328049(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173207
GeneHBA2
is asnp
is mentioned by
dbSNPrs41328049
ebirs41328049
HLIrs41328049
Exacrs41328049
Varsomers41328049
Maprs41328049
PheGenIrs41328049
hapmaprs41328049
1000 genomesrs41328049
hgdprs41328049
ensemblrs41328049
gopubmedrs41328049
geneviewrs41328049
scholarrs41328049
googlers41328049
pharmgkbrs41328049
gwascentralrs41328049
openSNPrs41328049
23andMers41328049
23andMe allrs41328049
SNP Nexus

SNPshotrs41328049
SNPdbers41328049
MSV3drs41328049
GWAS Ctlgrs41328049
Max Magnitude0
OMIM141850
Desc
Variant0065
Relatedalso
ClinVar
Risk rs41328049(A,C;A,C)
Alt rs41328049(A,C;A,C)
Reference rs41328049(G;G)
Significance Other
Disease HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia
Reversed 0
HGVS NC_000016.9:g.223206G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016978.1, RCV000016979.26,


[PMID 15658192] A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].