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rs41331747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs41331747(A;T)
Make rs41331747(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173286
GeneHBA2
is asnp
is mentioned by
dbSNPrs41331747
ebirs41331747
HLIrs41331747
Exacrs41331747
Varsomers41331747
Maprs41331747
PheGenIrs41331747
hapmaprs41331747
1000 genomesrs41331747
hgdprs41331747
ensemblrs41331747
gopubmedrs41331747
geneviewrs41331747
scholarrs41331747
googlers41331747
pharmgkbrs41331747
gwascentralrs41331747
openSNPrs41331747
23andMers41331747
23andMe allrs41331747
SNP Nexus

SNPshotrs41331747
SNPdbers41331747
MSV3drs41331747
GWAS Ctlgrs41331747
Max Magnitude0
OMIM141850
Desc
Variant0015
Relatedalso


ClinVar
Risk rs41331747(G,T;G,T)
Alt rs41331747(G,T;G,T)
Reference rs41331747(A;A)
Significance Other
Disease HEMOGLOBIN INKSTER
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN INKSTER
Reversed 0
HGVS NC_000016.9:g.223285A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016925.1,



[PMID 4212045] Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.