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rs9483788

From SNPedia

Orientationplus
Stabilizedplus
Make rs9483788(C;C)
Make rs9483788(C;T)
Make rs9483788(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135114363
is asnp
is mentioned by
dbSNPrs9483788
ebirs9483788
HLIrs9483788
Exacrs9483788
Varsomers9483788
Maprs9483788
PheGenIrs9483788
hapmaprs9483788
1000 genomesrs9483788
hgdprs9483788
ensemblrs9483788
gopubmedrs9483788
geneviewrs9483788
scholarrs9483788
googlers9483788
pharmgkbrs9483788
gwascentralrs9483788
openSNPrs9483788
23andMers9483788
23andMe allrs9483788
SNP Nexus

SNPshotrs9483788
SNPdbers9483788
MSV3drs9483788
GWAS Ctlgrs9483788
GMAF0.2034
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19862010OA-icon.png]
Trait Hematocrit
Title Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Risk Allele C
P-val 3E-15
Odds Ratio 0.22 [0.16-0.28] % increase


[PMID 17592125OA-icon.png] Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.


[PMID 20401335OA-icon.png] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.


GET Evidence
rs9483788
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.179688
summary



[PMID 25928412OA-icon.png] Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer