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rs4895441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4895441(A;G)
Make rs4895441(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position135105435
is asnp
is mentioned by
dbSNPrs4895441
ebirs4895441
HLIrs4895441
Exacrs4895441
Varsomers4895441
Maprs4895441
PheGenIrs4895441
hapmaprs4895441
1000 genomesrs4895441
hgdprs4895441
ensemblrs4895441
gopubmedrs4895441
geneviewrs4895441
scholarrs4895441
googlers4895441
pharmgkbrs4895441
gwascentralrs4895441
openSNPrs4895441
23andMers4895441
23andMe allrs4895441
SNP Nexus

SNPshotrs4895441
SNPdbers4895441
MSV3drs4895441
GWAS Ctlgrs4895441
GMAF0.2291
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM142470
DescFETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
Variant
Relatedalso
OMIM603903
DescSICKLE CELL ANEMIA
Variant
Relatedalso
GWAS snp
PMID [PMID 19862010OA-icon.png]
Trait Mean corpuscular volume
Title Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Risk Allele G
P-val 7E-86
Odds Ratio 0.01 [0.007-0.009] fl decrease
GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population
Risk Allele G
P-val 2E-9
Odds Ratio 0.25 [NR] % variance

[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

[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 18245381OA-icon.png] Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

[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.


GET Evidence
rs4895441
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.25
summary



GWAS snp
PMID [PMID 23263863OA-icon.png]
Trait Mean corpuscular hemoglobin concentration
Title GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Risk Allele A
P-val 3E-6
Odds Ratio .09 [0.054-0.132] unit decrease
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 3E-6
Odds Ratio .01 [0.0051-0.0125] unit increase


ClinVar
Risk rs4895441(G;G)
Alt rs4895441(G;G)
Reference rs4895441(A;A)
Significance Probable-Pathogenic
Disease Fetal hemoglobin quantitative trait locus 2
Variation info
Gene LOC105378010
CLNDBN Fetal hemoglobin quantitative trait locus 2
Reversed 0
HGVS NC_000006.12:g.135105435A>G
CLNSRC
CLNACC RCV000119308.1,



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


[PMID 26460247] Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit