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rs41378349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41378349(A;A)
Make rs41378349(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173206
GeneHBA2
is asnp
is mentioned by
dbSNPrs41378349
ebirs41378349
HLIrs41378349
Exacrs41378349
Varsomers41378349
Maprs41378349
PheGenIrs41378349
hapmaprs41378349
1000 genomesrs41378349
hgdprs41378349
ensemblrs41378349
gopubmedrs41378349
geneviewrs41378349
scholarrs41378349
googlers41378349
pharmgkbrs41378349
gwascentralrs41378349
openSNPrs41378349
23andMers41378349
23andMe allrs41378349
SNP Nexus

SNPshotrs41378349
SNPdbers41378349
MSV3drs41378349
GWAS Ctlgrs41378349
Max Magnitude0
OMIM141850
Desc
Variant0039
Relatedalso
ClinVar
Risk rs41378349(A;A)
Alt rs41378349(A;A)
Reference rs41378349(C;C)
Significance Other
Disease HEMOGLOBIN BOGHE
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN BOGHE
Reversed 0
HGVS NC_000016.9:g.223205C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016950.1,


[PMID 10569723] Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1].