rs7267595

Homo sapiens
A>C / A>T
JAG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0452 (13548/29916,GnomAD)
A==0462 (13468/29118,TOPMED)
A==0378 (1894/5008,1000G)
chr20:10663202 (GRCh38.p7) (20p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.10663202A>C
GRCh38.p7 chr 20NC_000020.11:g.10663202A>T
GRCh37.p13 chr 20NC_000020.10:g.10643850A>C
GRCh37.p13 chr 20NC_000020.10:g.10643850A>T
JAG1 RefSeqGene LRG_1191
JAG1 RefSeqGene LRG_1191

Gene: JAG1, jagged 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
JAG1 transcriptNM_000214.2:c.N/AIntron Variant
JAG1 transcript variant X1XM_017027707.1:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.395C=0.605
1000GenomesAmericanSub694A=0.360C=0.640
1000GenomesEast AsianSub1008A=0.300C=0.700
1000GenomesEuropeSub1006A=0.513C=0.487
1000GenomesGlobalStudy-wide5008A=0.378C=0.622
1000GenomesSouth AsianSub978A=0.310C=0.690
The Genome Aggregation DatabaseAfricanSub8702A=0.398C=0.602
The Genome Aggregation DatabaseAmericanSub832A=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1612A=0.276C=0.724
The Genome Aggregation DatabaseEuropeSub18468A=0.495C=0.504
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.452C=0.547
The Genome Aggregation DatabaseOtherSub302A=0.490C=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.462C=0.537
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
rs72675950.000865alcohol dependence21314694

eQTL of rs7267595 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 rs7267595 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 )
chr201705754117057591E070403
chr201705765317057703E070515
chr201705783017058186E070692
chr201702605417026104E081-31034
chr201708105217081102E08123914
chr201708123917081636E08124101
chr201708218817082481E08125050
chr201708218817082481E08225050