rs41437948

Homo sapiens
T>G
POU6F2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0016 (498/29992,GnomAD)
G=0023 (695/29118,TOPMED)
G=0018 (91/5008,1000G)
chr7:39159265 (GRCh38.p7) (7p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.39159265T>G
GRCh37.p13 chr 7NC_000007.13:g.39198864T>G
POU6F2 RefSeqGeneNG_016022.1:g.186256T>G

Gene: POU6F2, POU class 6 homeobox 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
POU6F2 transcript variant 2NM_001166018.1:c.N/AIntron Variant
POU6F2 transcript variant 1NM_007252.3:c.N/AIntron Variant
POU6F2 transcript variant X1XM_011515113.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.933G=0.067
1000GenomesAmericanSub694T=1.000G=0.000
1000GenomesEast AsianSub1008T=1.000G=0.000
1000GenomesEuropeSub1006T=1.000G=0.000
1000GenomesGlobalStudy-wide5008T=0.982G=0.018
1000GenomesSouth AsianSub978T=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.976G=0.023
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs414379480.000977alcohol dependence21314694

eQTL of rs41437948 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs41437948 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr73921892839219051E08120064
chr73921908839219144E08120224
chr73921922839219450E08120364

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73917033239170414E067-28450
chr73917050339170644E067-28220
chr73917067239171196E067-27668
chr73917033239170414E068-28450
chr73917050339170644E068-28220
chr73917067239171196E068-27668
chr73917033239170414E070-28450
chr73917050339170644E070-28220
chr73917033239170414E071-28450
chr73917050339170644E071-28220
chr73917067239171196E071-27668
chr73917033239170414E072-28450
chr73917050339170644E072-28220
chr73917067239171196E072-27668
chr73916997139170202E073-28662
chr73917033239170414E073-28450
chr73917050339170644E073-28220
chr73917067239171196E073-27668
chr73917067239171196E082-27668