rs1944980

Homo sapiens
C>T
CCBE1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0136 (4098/29946,GnomAD)
T=0179 (5237/29118,TOPMED)
T=0151 (754/5008,1000G)
T=0108 (416/3854,ALSPAC)
T=0108 (400/3708,TWINSUK)
chr18:59616901 (GRCh38.p7) (18q21.32)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.59616901C>T
GRCh37.p13 chr 18NC_000018.9:g.57284133C>T
CCBE1 RefSeqGeneNG_016990.1:g.85512G>A

Gene: CCBE1, collagen and calcium binding EGF domains 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCBE1 transcriptNM_133459.3:c.N/AIntron Variant
CCBE1 transcript variant X1XM_017025556.1:c.N/AIntron Variant
CCBE1 transcript variant X2XM_017025557.1:c.N/AIntron Variant
CCBE1 transcript variant X5XM_017025558.1:c.N/AIntron Variant
CCBE1 transcript variant X4XR_001753142.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.748T=0.252
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.871T=0.129
1000GenomesEuropeSub1006C=0.911T=0.089
1000GenomesGlobalStudy-wide5008C=0.849T=0.151
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.892T=0.108
The Genome Aggregation DatabaseAfricanSub8702C=0.764T=0.236
The Genome Aggregation DatabaseAmericanSub836C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1618C=0.871T=0.129
The Genome Aggregation DatabaseEuropeSub18488C=0.909T=0.091
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.863T=0.136
The Genome Aggregation DatabaseOtherSub302C=0.790T=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.820T=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.892T=0.108
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19449800.0000575alcoholismpha002893
rs19449800.000058alcohol dependence20201924
rs19449800.00014Alcohol dependence (early age of onset)20201924

eQTL of rs1944980 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 rs1944980 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 )
chr185732655457326664E07342421
chr185723429957234421E081-49712
chr185723446657234538E081-49595
chr185723626757236354E081-47779
chr185723636457236502E081-47631
chr185723672157237022E081-47111
chr185723713157237241E081-46892
chr185723728657237533E081-46600
chr185723764757238406E081-45727
chr185724338357243447E081-40686
chr185724384757244444E081-39689
chr185724446257244575E081-39558
chr185724464657244801E081-39332
chr185724498957245039E081-39094
chr185727957757280217E081-3916
chr185728022557280440E081-3693
chr185732618957326497E08142056
chr185732655457326664E08142421
chr185732674757328983E08142614
chr185723626757236354E082-47779
chr185723636457236502E082-47631
chr185723672157237022E082-47111
chr185723713157237241E082-46892