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rs41457351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41457351(C;T)
Make rs41457351(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173506
GeneHBA2
is asnp
is mentioned by
dbSNPrs41457351
dbSNP (classic)rs41457351
ClinGenrs41457351
ebirs41457351
HLIrs41457351
Exacrs41457351
Gnomadrs41457351
Varsomers41457351
LitVarrs41457351
Maprs41457351
PheGenIrs41457351
Biobankrs41457351
1000 genomesrs41457351
hgdprs41457351
ensemblrs41457351
geneviewrs41457351
scholarrs41457351
googlers41457351
pharmgkbrs41457351
gwascentralrs41457351
openSNPrs41457351
23andMers41457351
SNPshotrs41457351
SNPdbers41457351
MSV3drs41457351
GWAS Ctlgrs41457351
Max Magnitude0
OMIM141850
Desc
Variant0029
Relatedalso


ClinVar
Risk rs41457351(T;T)
Alt rs41457351(T;T)
Reference Rs41457351(C;C)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223505C>T
CLNSRC
CLNACC



[PMID 7615398] Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.