rs10980992

Homo sapiens
C>T
ANKRD18CP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0166 (4999/29946,GnomAD)
T=0140 (4088/29118,TOPMED)
T=0156 (780/5008,1000G)
T=0198 (764/3854,ALSPAC)
T=0200 (742/3708,TWINSUK)
chr9:97183759 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.97183759C>T
GRCh37.p13 chr 9NC_000009.11:g.99946041C>T

Gene: ANKRD18CP, ankyrin repeat domain 18C, pseudogene(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKRD18CP transcriptNR_136286.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.889T=0.111
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.900T=0.100
1000GenomesEuropeSub1006C=0.815T=0.185
1000GenomesGlobalStudy-wide5008C=0.844T=0.156
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.802T=0.198
The Genome Aggregation DatabaseAfricanSub8726C=0.873T=0.127
The Genome Aggregation DatabaseAmericanSub836C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1608C=0.923T=0.077
The Genome Aggregation DatabaseEuropeSub18474C=0.806T=0.193
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.833T=0.166
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.859T=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.800T=0.200
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs109809920.000331alcohol dependence24277619

eQTL of rs10980992 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr9:99946041ANKRD18CPENSG00000159712.10C>T1.1345e-14-37476Cerebellum
Chr9:99946041CCDC180ENSG00000197816.9C>T3.1637e-9-62426Cerebellum
Chr9:99946041ANKRD18CPENSG00000159712.10C>T7.9594e-16-37476Frontal_Cortex_BA9
Chr9:99946041RP11-498P14.5ENSG00000203279.3C>T1.1696e-10-54941Frontal_Cortex_BA9
Chr9:99946041CCDC180ENSG00000197816.9C>T1.0793e-4-62426Cortex
Chr9:99946041ANKRD18CPENSG00000159712.10C>T7.7011e-11-37476Cerebellar_Hemisphere
Chr9:99946041RP11-498P14.5ENSG00000203279.3C>T2.8676e-15-54941Cerebellar_Hemisphere
Chr9:99946041CCDC180ENSG00000197816.9C>T2.0973e-3-62426Caudate_basal_ganglia
Chr9:99946041RP11-520B13.4ENSG00000228376.3C>T4.3869e-13101814Anterior_cingulate_cortex
Chr9:99946041ANKRD18CPENSG00000159712.10C>T9.3301e-10-37476Anterior_cingulate_cortex
Chr9:99946041RP11-498P14.5ENSG00000203279.3C>T1.3477e-12-54941Nucleus_accumbens_basal_ganglia

meQTL of rs10980992 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 )
chr99991209299912163E068-33878
chr99992274799922856E068-23185
chr99993846699938853E070-7188
chr99993846699938853E081-7188



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr99998294699983021E06736905
chr99998310799984391E06737066
chr99998444799984555E06738406
chr99998469499984886E06738653
chr99998294699983021E06836905
chr99998310799984391E06837066
chr99998444799984555E06838406
chr99998469499984886E06838653
chr99998310799984391E06937066
chr99998444799984555E06938406
chr99998469499984886E06938653
chr99998294699983021E07136905
chr99998310799984391E07137066
chr99998469499984886E07138653
chr99998294699983021E07236905
chr99998310799984391E07237066
chr99998444799984555E07238406
chr99998469499984886E07238653
chr99998294699983021E07336905
chr99998310799984391E07337066
chr99998444799984555E07338406
chr99998469499984886E07338653
chr99998310799984391E07437066
chr99998444799984555E07438406
chr99998310799984391E08237066
chr99998444799984555E08238406
chr99998469499984886E08238653