rs12581277

Homo sapiens
T>C
C12orf66 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0068 (2052/29986,GnomAD)
C=0052 (1517/29118,TOPMED)
C=0133 (665/5008,1000G)
C=0088 (339/3854,ALSPAC)
C=0070 (259/3708,TWINSUK)
chr12:64203547 (GRCh38.p7) (12q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.64203547T>C
GRCh37.p13 chr 12NC_000012.11:g.64597327T>C

Gene: C12orf66, chromosome 12 open reading frame 66(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C12orf66 transcript variant 1NM_001300940.1:c.N/AIntron Variant
C12orf66 transcript variant 3NM_001300941.1:c.N/AIntron Variant
C12orf66 transcript variant 2NM_152440.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.991C=0.009
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.635C=0.365
1000GenomesEuropeSub1006T=0.930C=0.070
1000GenomesGlobalStudy-wide5008T=0.867C=0.133
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.912C=0.088
The Genome Aggregation DatabaseAfricanSub8730T=0.983C=0.017
The Genome Aggregation DatabaseAmericanSub836T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1616T=0.618C=0.382
The Genome Aggregation DatabaseEuropeSub18502T=0.933C=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.931C=0.068
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.947C=0.052
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.930C=0.070
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
rs125812770.000851alcohol dependence21314694

eQTL of rs12581277 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 rs12581277 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 )
chr126461391964614039E06716592
chr126461408164614131E06716754
chr126461474064615006E06717413
chr126462317364623401E06725846
chr126463953364639799E06742206
chr126463984164639992E06742514
chr126464016464640358E06742837
chr126456363564564655E068-32672
chr126457450864576236E068-21091
chr126461474064615006E06817413
chr126462317364623401E06825846
chr126462471064624760E06827383
chr126463043464630608E06833107
chr126463065664630706E06833329
chr126463401664634114E06836689
chr126463445864634654E06837131
chr126464632464646946E06848997
chr126456363564564655E069-32672
chr126456910064569645E069-27682
chr126461408164614131E06916754
chr126461474064615006E06917413
chr126462317364623401E06925846
chr126462471064624760E06927383
chr126463043464630608E06933107
chr126463065664630706E06933329
chr126463445864634654E06937131
chr126463467664634890E06937349
chr126463984164639992E06942514
chr126464016464640358E06942837
chr126464632464646946E06948997
chr126456363564564655E070-32672
chr126456467264564801E070-32526
chr126456363564564655E071-32672
chr126459906464599319E0711737
chr126461391964614039E07116592
chr126461408164614131E07116754
chr126462317364623401E07125846
chr126462471064624760E07127383
chr126463043464630608E07133107
chr126463065664630706E07133329
chr126463083364630908E07133506
chr126463127864631328E07133951
chr126463401664634114E07136689
chr126463445864634654E07137131
chr126463918964639249E07141862
chr126463926564639315E07141938
chr126463953364639799E07142206
chr126463984164639992E07142514
chr126464016464640358E07142837
chr126464632464646946E07148997
chr126456363564564655E072-32672
chr126456910064569645E072-27682
chr126457450864576236E072-21091
chr126462471064624760E07227383
chr126463083364630908E07233506
chr126463401664634114E07236689
chr126463445864634654E07237131
chr126463467664634890E07237349
chr126463953364639799E07242206
chr126463984164639992E07242514
chr126464016464640358E07242837
chr126464632464646946E07248997
chr126456363564564655E073-32672
chr126461408164614131E07316754
chr126462317364623401E07325846
chr126463401664634114E07336689
chr126463445864634654E07337131
chr126464632464646946E07348997
chr126457450864576236E074-21091
chr126461408164614131E07416754
chr126461474064615006E07417413
chr126462471064624760E07427383
chr126462624964626346E07428922
chr126463043464630608E07433107
chr126463065664630706E07433329
chr126463401664634114E07436689
chr126463445864634654E07437131
chr126463467664634890E07437349
chr126463535364635467E07438026
chr126463953364639799E07442206
chr126463984164639992E07442514
chr126464016464640358E07442837
chr126464632464646946E07448997
chr126456363564564655E081-32672
chr126456910064569645E081-27682
chr126457137864571438E081-25889
chr126457172664571776E081-25551
chr126458564664585722E081-11605
chr126458620564586255E081-11072
chr126458651264587047E081-10280
chr126463219864632242E08134871
chr126463233664632382E08135009
chr126463249164632646E08135164
chr126463269664632980E08135369
chr126463351064633607E08136183
chr126456363564564655E082-32672
chr126456467264564801E082-32526
chr126456910064569645E082-27682










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr126461514464616712E06717817
chr126461514464616712E06817817
chr126461701664617161E06819689
chr126461514464616712E06917817
chr126461514464616712E07017817
chr126461514464616712E07117817
chr126461514464616712E07217817
chr126461514464616712E07317817
chr126461514464616712E07417817
chr126461514464616712E08117817
chr126461514464616712E08217817