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rs41507451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41507451(A;A)
Make rs41507451(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173594
GeneHBA2
is asnp
is mentioned by
dbSNPrs41507451
ebirs41507451
HLIrs41507451
Exacrs41507451
Varsomers41507451
Maprs41507451
PheGenIrs41507451
hapmaprs41507451
1000 genomesrs41507451
hgdprs41507451
ensemblrs41507451
gopubmedrs41507451
geneviewrs41507451
scholarrs41507451
googlers41507451
pharmgkbrs41507451
gwascentralrs41507451
openSNPrs41507451
23andMers41507451
23andMe allrs41507451
SNP Nexus

SNPshotrs41507451
SNPdbers41507451
MSV3drs41507451
GWAS Ctlgrs41507451
Max Magnitude0
OMIM141850
Desc
Variant0033
Relatedalso
ClinVar
Risk rs41507451(A;A)
Alt rs41507451(A;A)
Reference rs41507451(C;C)
Significance Other
Disease HEMOGLOBIN NATAL
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN NATAL
Reversed 0
HGVS NC_000016.9:g.223593C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016944.1,


[PMID 3191134] Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140.