rs719779

Homo sapiens
T>C
CNBD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0014 (421/29986,GnomAD)
C=0022 (649/29118,TOPMED)
C=0014 (68/5008,1000G)
chr8:87113490 (GRCh38.p7) (8q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.87113490T>C
GRCh37.p13 chr 8NC_000008.10:g.88125718T>C

Gene: CNBD1, cyclic nucleotide binding domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CNBD1 transcriptNM_173538.2:c.N/AIntron Variant
CNBD1 transcript variant X2XM_017013149.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.952C=0.048
1000GenomesAmericanSub694T=0.990C=0.010
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=1.000C=0.000
1000GenomesGlobalStudy-wide5008T=0.986C=0.014
1000GenomesSouth AsianSub978T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8728T=0.952C=0.048
The Genome Aggregation DatabaseAmericanSub836T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1620T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18500T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.986C=0.014
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.977C=0.022
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
rs7197790.000792alcohol dependence20201924

eQTL of rs719779 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 rs719779 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 )
chr88816928388169407E08143565
chr88816971388170203E08243995