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

rs33960522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33960522(C;C)
Make rs33960522(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176987
GeneHBA1
is asnp
is mentioned by
dbSNPrs33960522
ebirs33960522
HLIrs33960522
Exacrs33960522
Varsomers33960522
Maprs33960522
PheGenIrs33960522
hapmaprs33960522
1000 genomesrs33960522
hgdprs33960522
ensemblrs33960522
gopubmedrs33960522
geneviewrs33960522
scholarrs33960522
googlers33960522
pharmgkbrs33960522
gwascentralrs33960522
openSNPrs33960522
23andMers33960522
23andMe allrs33960522
SNP Nexus

SNPshotrs33960522
SNPdbers33960522
MSV3drs33960522
GWAS Ctlgrs33960522
Max Magnitude0
OMIM141800
Desc
Variant0125
Relatedalso
OMIM141800
Desc
Variant0216
Relatedalso
ClinVar
Risk rs33960522(A,C;A,C)
Alt rs33960522(A,C;A,C)
Reference rs33960522(G;G)
Significance Other
Disease HEMOGLOBIN RICCARTON HEMOGLOBIN RUSS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN RICCARTON HEMOGLOBIN RUSS
Reversed 0
HGVS NC_000016.9:g.226986G>A; NC_000016.9:g.226986G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017235.2, RCV000017147.2,


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 15768556] Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.