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rs9399137

From SNPedia

Orientationplus
Stabilizedplus
Make rs9399137(C;C)
Make rs9399137(C;T)
Make rs9399137(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position135097880
is asnp
is mentioned by
dbSNPrs9399137
ebirs9399137
HLIrs9399137
Exacrs9399137
Varsomers9399137
Maprs9399137
PheGenIrs9399137
hapmaprs9399137
1000 genomesrs9399137
hgdprs9399137
ensemblrs9399137
gopubmedrs9399137
geneviewrs9399137
scholarrs9399137
googlers9399137
pharmgkbrs9399137
gwascentralrs9399137
openSNPrs9399137
23andMers9399137
23andMe allrs9399137
SNP Nexus

SNPshotrs9399137
SNPdbers9399137
MSV3drs9399137
GWAS Ctlgrs9399137
GMAF0.208
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs9399137
PubMedID [PMID 17767159]
Condition F-cell distribution
Gene Intergenic
Risk Allele
pValue 3.00E-036
OR 15.8
95% CI NR) % of variance explaine


OMIM142470
DescFETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
Variant
Relatedalso
OMIM603903
DescSICKLE CELL ANEMIA
Variant
Relatedalso



[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients

GWAS snp
PMID [PMID 19853236OA-icon.png]
Trait Hematology traits
Title Sequence variants in three loci influence monocyte counts and erythrocyte volume
Risk Allele T
P-val 1E-9
Odds Ratio 0.16 [0.10-0.22] s.d. decrease


[PMID 21068433] Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia


[PMID 21791466OA-icon.png] Variants in genetic modifiers of {beta}-thalassemia can help to predict the major or intermedia type of the disease


[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 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 18695233OA-icon.png] Genetic complexity in sickle cell disease.


[PMID 19148297OA-icon.png] Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.


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


[PMID 21385855OA-icon.png] A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.


GET Evidence
rs9399137
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.155738
summary



GWAS snp
PMID [PMID 23043469]
Trait HbA2 levels
Title HbA(2) levels in normal adults are influenced by two distinct genetic mechanisms.
Risk Allele C
P-val 5E-9
Odds Ratio NR NR
GWAS snp
PMID [PMID 23263863OA-icon.png]
Trait Hematology traits
Title GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Risk Allele T
P-val 3E-6
Odds Ratio .04 [0.021-0.051] unit increase
GWAS snp
PMID [PMID 22139419OA-icon.png]
Trait Platelet counts
Title New gene functions in megakaryopoiesis and platelet formation.
Risk Allele C
P-val 5E-47
Odds Ratio 5.90 [5.1-6.7] 10^9/l increase
GWAS snp
PMID [PMID 24647736OA-icon.png]
Trait Glycated hemoglobin levels
Title Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
Risk Allele T
P-val 9E-15
Odds Ratio .07 [0.050-0.090] unit increase
GWAS snp
PMID [PMID 24026423OA-icon.png]
Trait Platelet counts
Title A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Risk Allele T
P-val 8E-10
Odds Ratio 5.51 [NR] unit decrease


[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia


[PMID 25806420] Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island