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rs41518249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41518249(A;A)
Make rs41518249(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173179
GeneHBA2
is asnp
is mentioned by
dbSNPrs41518249
ebirs41518249
HLIrs41518249
Exacrs41518249
Varsomers41518249
Maprs41518249
PheGenIrs41518249
hapmaprs41518249
1000 genomesrs41518249
hgdprs41518249
ensemblrs41518249
gopubmedrs41518249
geneviewrs41518249
scholarrs41518249
googlers41518249
pharmgkbrs41518249
gwascentralrs41518249
openSNPrs41518249
23andMers41518249
23andMe allrs41518249
SNP Nexus

SNPshotrs41518249
SNPdbers41518249
MSV3drs41518249
GWAS Ctlgrs41518249
Max Magnitude0
OMIM141800
Desc
Variant0127
Relatedalso
ClinVar
Risk rs41518249(A;A)
Alt rs41518249(A;A)
Reference rs41518249(C;C)
Significance Other
Disease HEMOGLOBIN SAVARIA
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN SAVARIA
Reversed 0
HGVS NC_000016.9:g.223178C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017149.1,



[PMID 3937826] Hb Savaria or alpha(2)49(CE7)Ser----Arg beta 2 in a Yugoslavian family.


[PMID 7353957] A new hemoblogin variant in hungary: Hb Savaria - alpha 49 (CE7) Ser replace by Arg.