rs1372631

Homo sapiens
T>G
DLGAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0403 (12064/29920,GnomAD)
G=0471 (13741/29118,TOPMED)
G=0486 (2433/5008,1000G)
G=0282 (1087/3854,ALSPAC)
G=0263 (974/3708,TWINSUK)
chr18:4026587 (GRCh38.p7) (18p11.31)
ND
GWASdb2
1   publication(s)
See rs on genome
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.4026587T>G
GRCh37.p13 chr 18NC_000018.9:g.4026587T>G

Gene: DLGAP1, discs large homolog associated protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DLGAP1 transcript variant 3NM_001242761.1:c.N/AIntron Variant
DLGAP1 transcript variant 1NM_004746.3:c.N/AIntron Variant
DLGAP1 transcript variant 2NM_001003809.2:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 4NM_001242762.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 5NM_001242763.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 6NM_001242764.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 7NM_001242765.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 8NM_001242766.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant 9NM_001308390.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X1XM_005258171.2:c.N/AIntron Variant
DLGAP1 transcript variant X3XM_005258172.1:c.N/AIntron Variant
DLGAP1 transcript variant X12XM_011525770.2:c.N/AIntron Variant
DLGAP1 transcript variant X13XM_011525771.2:c.N/AIntron Variant
DLGAP1 transcript variant X4XM_005258173.3:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X9XM_005258174.4:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X5XM_006722367.3:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X6XM_017026080.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X7XM_017026081.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X8XM_017026082.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X10XM_017026083.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X11XM_017026084.1:c.N/AGenic Upstream Transcript Variant
DLGAP1 transcript variant X11XM_017026085.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.280G=0.720
1000GenomesAmericanSub694T=0.580G=0.420
1000GenomesEast AsianSub1008T=0.580G=0.420
1000GenomesEuropeSub1006T=0.724G=0.276
1000GenomesGlobalStudy-wide5008T=0.514G=0.486
1000GenomesSouth AsianSub978T=0.500G=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.718G=0.282
The Genome Aggregation DatabaseAfricanSub8708T=0.335G=0.665
The Genome Aggregation DatabaseAmericanSub834T=0.570G=0.430
The Genome Aggregation DatabaseEast AsianSub1608T=0.596G=0.404
The Genome Aggregation DatabaseEuropeSub18468T=0.721G=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.596G=0.403
The Genome Aggregation DatabaseOtherSub302T=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.528G=0.471
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.737G=0.263
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs13726314.13E-05alcohol and nictotine co-dependence20158304

eQTL of rs1372631 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 rs1372631 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 )
chr1839849003985020E067-41567
chr1840043264004492E068-22095
chr1840045604004740E068-21847
chr1839943713994427E070-32160
chr1839944523994613E070-31974
chr1839949423994992E070-31595
chr1840062434006311E070-20276
chr1840492094049409E07022622
chr1840496084049660E07023021
chr1840581404058681E07031553
chr1839864663986516E081-40071
chr1840570494057120E08130462
chr1840572054057297E08130618
chr1840575184057743E08130931
chr1840577754058059E08131188
chr1840581404058681E08131553
chr1840575184057743E08230931
chr1840577754058059E08231188
chr1840581404058681E08231553
chr1840588514059004E08232264





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1839954073995843E068-30744
chr1839954073995843E072-30744
chr1839954073995843E073-30744