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rs41322954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs41322954(A;C)
Make rs41322954(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177125
GeneHBA1
is asnp
is mentioned by
dbSNPrs41322954
ebirs41322954
HLIrs41322954
Exacrs41322954
Varsomers41322954
Maprs41322954
PheGenIrs41322954
hapmaprs41322954
1000 genomesrs41322954
hgdprs41322954
ensemblrs41322954
gopubmedrs41322954
geneviewrs41322954
scholarrs41322954
googlers41322954
pharmgkbrs41322954
gwascentralrs41322954
openSNPrs41322954
23andMers41322954
23andMe allrs41322954
SNP Nexus

SNPshotrs41322954
SNPdbers41322954
MSV3drs41322954
GWAS Ctlgrs41322954
Max Magnitude0
OMIM141800
Desc
Variant0197
Relatedalso
ClinVar
Risk rs41322954(C;C)
Alt rs41322954(C;C)
Reference rs41322954(A;A)
Significance Other
Disease HEMOGLOBIN FUCHU-II
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN FUCHU-II
Reversed 0
HGVS NC_000016.9:g.227124A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017216.2,


[PMID 8718697] Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His].