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rs41417548

From SNPedia

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


Make rs41417548(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position173485
GeneHBA2
is asnp
is mentioned by
dbSNPrs41417548
ebirs41417548
HLIrs41417548
Exacrs41417548
Varsomers41417548
Maprs41417548
PheGenIrs41417548
hapmaprs41417548
1000 genomesrs41417548
hgdprs41417548
ensemblrs41417548
gopubmedrs41417548
geneviewrs41417548
scholarrs41417548
googlers41417548
pharmgkbrs41417548
gwascentralrs41417548
openSNPrs41417548
23andMers41417548
23andMe allrs41417548
SNP Nexus

SNPshotrs41417548
SNPdbers41417548
MSV3drs41417548
GWAS Ctlgrs41417548
Max Magnitude3
OMIM141850
Desc
Variant0031
Relatedalso


ClinVar
Risk rs41417548(A;A)
Alt rs41417548(A;A)
Reference rs41417548(G;G)
Significance Other
Disease HEMOGLOBIN SALLANCHES Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN SALLANCHES Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.223484G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016942.1, RCV000022606.4,



[PMID 8555062] A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient.


[PMID 10722113] Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family.


[PMID 11186268] Homozygous Hb Sallanches [alpha104(G11)Cys-->Tyr] in a Pakistani child with Hb H disease.


[PMID 16840231] Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC-->TAC (alpha2)]: an unstable hemoglobin variant found in an Indian child.


[PMID 20113287] Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.