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rs7776054

From SNPedia

Orientationplus
Stabilizedplus
Make rs7776054(A;A)
Make rs7776054(A;G)
Make rs7776054(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position135097778
is asnp
is mentioned by
dbSNPrs7776054
ebirs7776054
HLIrs7776054
Exacrs7776054
Varsomers7776054
Maprs7776054
PheGenIrs7776054
hapmaprs7776054
1000 genomesrs7776054
hgdprs7776054
ensemblrs7776054
gopubmedrs7776054
geneviewrs7776054
scholarrs7776054
googlers7776054
pharmgkbrs7776054
gwascentralrs7776054
openSNPrs7776054
23andMers7776054
23andMe allrs7776054
SNP Nexus

SNPshotrs7776054
SNPdbers7776054
MSV3drs7776054
GWAS Ctlgrs7776054
GMAF0.2466
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 19862010OA-icon.png]
Trait Mean corpuscular hemoglobin
Title Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Risk Allele G
P-val 7E-69
Odds Ratio 0.01 [0.009-0.0111] pg decrease


[PMID 18667698OA-icon.png] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.


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


GET Evidence
rs7776054
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.226562
summary



GWAS snp
PMID [PMID 23935956OA-icon.png]
Trait Red blood cell traits
Title Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
Risk Allele G
P-val 4E-6
Odds Ratio .01 [0.0060-0.0146] unit increase