Have questions? Visit https://www.reddit.com/r/SNPedia

rs41510746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41510746(A;A)
Make rs41510746(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173225
GeneHBA2
is asnp
is mentioned by
dbSNPrs41510746
dbSNP (classic)rs41510746
ClinGenrs41510746
ebirs41510746
HLIrs41510746
Exacrs41510746
Gnomadrs41510746
Varsomers41510746
LitVarrs41510746
Maprs41510746
PheGenIrs41510746
Biobankrs41510746
1000 genomesrs41510746
hgdprs41510746
ensemblrs41510746
geneviewrs41510746
scholarrs41510746
googlers41510746
pharmgkbrs41510746
gwascentralrs41510746
openSNPrs41510746
23andMers41510746
SNPshotrs41510746
SNPdbers41510746
MSV3drs41510746
GWAS Ctlgrs41510746
Max Magnitude0
OMIM141850
Desc
Variant0060
Relatedalso


ClinVar
Risk rs41510746(A;A)
Alt rs41510746(A;A)
Reference Rs41510746(G;G)
Significance Other
Disease HEMOGLOBIN PART-DIEU
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN PART-DIEU
Reversed 0
HGVS NC_000016.9:g.223224G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016972.2,



[PMID 15008265] Two new alpha chain variants: Hb Part-Dieu [alpha65(E14)Ala --> Thr (alpha2)] and Hb Decines-Charpieu [alpha69(E18)Ala --> Thr (alpha2)].