rs12088135

Homo sapiens
C>T
PFKFB2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0071 (2146/29988,GnomAD)
T=0086 (2525/29116,TOPMED)
T=0060 (300/5008,1000G)
T=0035 (135/3854,ALSPAC)
T=0038 (140/3708,TWINSUK)
chr1:207079566 (GRCh38.p7) (1q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.207079566C>T
GRCh37.p13 chr 1NC_000001.10:g.207252911C>T

Gene: PFKFB2, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PFKFB2 transcript variant 2NM_001018053.1:c.N/A3 Prime UTR Variant
PFKFB2 transcript variant 1NM_006212.2:c.N/AGenic Downstream Transcript Variant
PFKFB2 transcript variant X5XM_005273162.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.804T=0.196
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.978T=0.022
1000GenomesGlobalStudy-wide5008C=0.940T=0.060
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.965T=0.035
The Genome Aggregation DatabaseAfricanSub8724C=0.827T=0.173
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18504C=0.966T=0.033
The Genome Aggregation DatabaseGlobalStudy-wide29988C=0.928T=0.071
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.913T=0.086
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.962T=0.038
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
rs120881350.000619alcohol dependence21314694

eQTL of rs12088135 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 rs12088135 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 )
chr1207218922207219080E067-33831
chr1207222367207222491E067-30420
chr1207222794207222877E067-30034
chr1207225351207225407E067-27504
chr1207225528207225598E067-27313
chr1207228159207228553E067-24358
chr1207218922207219080E068-33831
chr1207222367207222491E068-30420
chr1207222794207222877E068-30034
chr1207243432207243828E068-9083
chr1207258033207258547E0685122
chr1207218922207219080E069-33831
chr1207228159207228553E069-24358
chr1207228567207228751E069-24160
chr1207229029207229157E069-23754
chr1207229226207229443E069-23468
chr1207258033207258547E0695122
chr1207222367207222491E070-30420
chr1207222794207222877E070-30034
chr1207222944207223080E070-29831
chr1207222367207222491E071-30420
chr1207222794207222877E071-30034
chr1207225351207225407E071-27504
chr1207225528207225598E071-27313
chr1207242468207242818E071-10093
chr1207243317207243388E071-9523
chr1207243432207243828E071-9083
chr1207244263207244503E071-8408
chr1207258033207258547E0715122
chr1207222367207222491E072-30420
chr1207222794207222877E072-30034
chr1207222944207223080E072-29831
chr1207237991207238243E072-14668
chr1207258033207258547E0725122
chr1207206724207206782E074-46129
chr1207218922207219080E074-33831
chr1207244263207244503E074-8408
chr1207244533207244622E074-8289
chr1207244673207245065E074-7846
chr1207222367207222491E081-30420
chr1207222794207222877E081-30034
chr1207225351207225407E081-27504
chr1207225528207225598E081-27313
chr1207222794207222877E082-30034









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1207223154207225237E067-27674
chr1207225992207227204E067-25707
chr1207223154207225237E068-27674
chr1207225992207227204E068-25707
chr1207223154207225237E069-27674
chr1207225992207227204E069-25707
chr1207223154207225237E070-27674
chr1207225992207227204E070-25707
chr1207223154207225237E071-27674
chr1207225992207227204E071-25707
chr1207223154207225237E072-27674
chr1207225992207227204E072-25707
chr1207223154207225237E073-27674
chr1207225992207227204E073-25707
chr1207223154207225237E074-27674
chr1207225992207227204E074-25707
chr1207223154207225237E081-27674
chr1207225992207227204E081-25707
chr1207223154207225237E082-27674
chr1207225992207227204E082-25707