rs4895441

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs4895441(A;G)

Make rs4895441(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

135105435

Gene	LOC105378010

is a	snp
is	mentioned by
dbSNP	rs4895441
dbSNP (classic)	rs4895441
ClinGen	rs4895441
ebi	rs4895441
HLI	rs4895441
Exac	rs4895441
Gnomad	rs4895441
Varsome	rs4895441
LitVar	rs4895441
Map	rs4895441
PheGenI	rs4895441
Biobank	rs4895441
1000 genomes	rs4895441
hgdp	rs4895441
ensembl	rs4895441
geneview	rs4895441
scholar	rs4895441
google	rs4895441
pharmgkb	rs4895441
gwascentral	rs4895441
openSNP	rs4895441
23andMe	rs4895441
SNPshot	rs4895441
SNPdbe	rs4895441
MSV3d	rs4895441
GWAS Ctlg	rs4895441

GMAF

0.2291

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

OMIM	142470
Desc	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
Variant
Related	also

OMIM	603903
Desc	SICKLE CELL ANEMIA
Variant
Related	also

GWAS snp
PMID	[PMID 19862010 ]
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 17592125 ] Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.

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

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

[PMID 18695233 ] Genetic complexity in sickle cell disease.

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

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

GWAS snp
PMID	[PMID 23263863 ]
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 23935956 ]
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

[PMID 32387854] The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.