rs10820967

Homo sapiens
G>C
CENPP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0388 (11640/29934,GnomAD)
C=0473 (13795/29118,TOPMED)
C=0349 (1748/5008,1000G)
C=0313 (1205/3854,ALSPAC)
C=0333 (1235/3708,TWINSUK)
chr9:92339447 (GRCh38.p7) (9q22.31)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.92339447G>C
GRCh37.p13 chr 9NC_000009.11:g.95101729G>C

Gene: CENPP, centromere protein P(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CENPP transcript variant 1NM_001012267.2:c.N/AIntron Variant
CENPP transcript variant 2NM_001286969.1:c.N/AIntron Variant
CENPP transcript variant 3NM_001286971.1:c.N/AGenic Upstream Transcript Variant
CENPP transcript variant X2XM_011518685.2:c.N/AIntron Variant
CENPP transcript variant X4XM_011518689.1:c.N/AIntron Variant
CENPP transcript variant X1XM_017014715.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.268C=0.732
1000GenomesAmericanSub694G=0.760C=0.240
1000GenomesEast AsianSub1008G=0.900C=0.100
1000GenomesEuropeSub1006G=0.675C=0.325
1000GenomesGlobalStudy-wide5008G=0.651C=0.349
1000GenomesSouth AsianSub978G=0.810C=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.687C=0.313
The Genome Aggregation DatabaseAfricanSub8706G=0.353C=0.647
The Genome Aggregation DatabaseAmericanSub838G=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1620G=0.903C=0.097
The Genome Aggregation DatabaseEuropeSub18470G=0.700C=0.299
The Genome Aggregation DatabaseGlobalStudy-wide29934G=0.611C=0.388
The Genome Aggregation DatabaseOtherSub300G=0.610C=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.526C=0.473
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.667C=0.333
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
rs108209670.000923alcohol dependence21314694

eQTL of rs10820967 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr9:95101729CENPPENSG00000188312.9G>C1.5165e-2013810Cerebellum
Chr9:95101729IPPKENSG00000127080.5G>C6.5253e-7-330818Cerebellum
Chr9:95101729CENPPENSG00000188312.9G>C1.5704e-1613810Frontal_Cortex_BA9
Chr9:95101729CENPPENSG00000188312.9G>C7.6963e-913810Hypothalamus
Chr9:95101729CENPPENSG00000188312.9G>C5.0201e-1813810Cortex
Chr9:95101729IPPKENSG00000127080.5G>C1.4337e-6-330818Cerebellar_Hemisphere
Chr9:95101729CENPPENSG00000188312.9G>C2.8739e-1613810Caudate_basal_ganglia
Chr9:95101729CENPPENSG00000188312.9G>C1.3039e-1813810Nucleus_accumbens_basal_ganglia

meQTL of rs10820967 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 )
chr99506332995063369E067-38360
chr99506339595063486E067-38243
chr99505409995054176E068-47553
chr99505453495054599E068-47130
chr99508637695086426E068-15303
chr99508649495086566E068-15163
chr99505409995054176E069-47553
chr99505453495054599E069-47130
chr99508637695086426E069-15303
chr99508649495086566E069-15163
chr99505409995054176E070-47553
chr99505453495054599E070-47130
chr99508637695086426E070-15303
chr99508649495086566E070-15163
chr99508930195089389E070-12340
chr99505409995054176E071-47553
chr99505453495054599E071-47130
chr99508637695086426E071-15303
chr99508649495086566E071-15163
chr99505409995054176E072-47553
chr99505453495054599E072-47130
chr99508637695086426E073-15303
chr99508649495086566E073-15163
chr99508930195089389E073-12340
chr99508637695086426E074-15303
chr99508649495086566E074-15163
chr99505453495054599E081-47130
chr99505409995054176E082-47553
chr99505453495054599E082-47130
chr99508637695086426E082-15303
chr99508649495086566E082-15163










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr99505516595057412E067-44317
chr99508680195088782E067-12947
chr99505516595057412E068-44317
chr99508680195088782E068-12947
chr99505516595057412E069-44317
chr99508680195088782E069-12947
chr99505516595057412E070-44317
chr99508680195088782E070-12947
chr99505516595057412E071-44317
chr99508680195088782E071-12947
chr99505516595057412E072-44317
chr99508680195088782E072-12947
chr99505516595057412E073-44317
chr99508680195088782E073-12947
chr99505516595057412E074-44317
chr99508680195088782E074-12947
chr99505516595057412E081-44317
chr99505516595057412E082-44317
chr99508680195088782E082-12947