rs17735215

Homo sapiens
T>C
DLG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0081 (2439/29986,GnomAD)
C=0074 (2173/29118,TOPMED)
C=0069 (347/5008,1000G)
C=0111 (426/3854,ALSPAC)
C=0113 (418/3708,TWINSUK)
chr11:84627241 (GRCh38.p7) (11q14.1)
ND
GWASdb2
1   publication(s)
See rs on genome
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.84627241T>C
GRCh37.p13 chr 11NC_000011.9:g.84338284T>C
DLG2 RefSeqGeneNG_021375.1:g.1005031A>G

Gene: DLG2, discs large homolog 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DLG2 transcript variant 1NM_001142699.1:c.N/AIntron Variant
DLG2 transcript variant 6NM_001300983.1:c.N/AIntron Variant
DLG2 transcript variant 2NM_001364.3:c.N/AIntron Variant
DLG2 transcript variant 3NM_001142700.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 4NM_001142702.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 5NM_001206769.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X4XM_011544778.2:c.N/AIntron Variant
DLG2 transcript variant X6XM_011544780.2:c.N/AIntron Variant
DLG2 transcript variant X15XM_011544782.2:c.N/AIntron Variant
DLG2 transcript variant X1XM_017017254.1:c.N/AIntron Variant
DLG2 transcript variant X2XM_017017255.1:c.N/AIntron Variant
DLG2 transcript variant X3XM_017017256.1:c.N/AIntron Variant
DLG2 transcript variant X5XM_017017257.1:c.N/AIntron Variant
DLG2 transcript variant X7XM_017017258.1:c.N/AIntron Variant
DLG2 transcript variant X8XM_017017259.1:c.N/AIntron Variant
DLG2 transcript variant X9XM_017017260.1:c.N/AIntron Variant
DLG2 transcript variant X10XM_017017261.1:c.N/AIntron Variant
DLG2 transcript variant X12XM_017017263.1:c.N/AIntron Variant
DLG2 transcript variant X13XM_017017264.1:c.N/AIntron Variant
DLG2 transcript variant X14XM_017017265.1:c.N/AIntron Variant
DLG2 transcript variant X17XM_017017267.1:c.N/AIntron Variant
DLG2 transcript variant X18XM_017017268.1:c.N/AIntron Variant
DLG2 transcript variant X19XM_017017269.1:c.N/AIntron Variant
DLG2 transcript variant X20XM_017017270.1:c.N/AIntron Variant
DLG2 transcript variant X21XM_017017271.1:c.N/AIntron Variant
DLG2 transcript variant X22XM_017017272.1:c.N/AIntron Variant
DLG2 transcript variant X23XM_017017274.1:c.N/AIntron Variant
DLG2 transcript variant X25XM_017017276.1:c.N/AIntron Variant
DLG2 transcript variant X29XM_017017279.1:c.N/AIntron Variant
DLG2 transcript variant X31XM_017017280.1:c.N/AIntron Variant
DLG2 transcript variant X32XM_017017281.1:c.N/AIntron Variant
DLG2 transcript variant X35XM_017017285.1:c.N/AIntron Variant
DLG2 transcript variant X28XM_005273810.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X32XM_005273811.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X36XM_011544788.2:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X11XM_017017262.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X16XM_017017266.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X23XM_017017273.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X24XM_017017275.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X26XM_017017277.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X27XM_017017278.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017282.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X33XM_017017283.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017284.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017286.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X38XM_017017287.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017288.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X40XM_017017289.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X41XM_017017290.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X42XM_017017291.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X43XM_017017292.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.986C=0.014
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.970C=0.030
1000GenomesEuropeSub1006T=0.907C=0.093
1000GenomesGlobalStudy-wide5008T=0.931C=0.069
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.889C=0.111
The Genome Aggregation DatabaseAfricanSub8730T=0.974C=0.026
The Genome Aggregation DatabaseAmericanSub838T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1618T=0.966C=0.034
The Genome Aggregation DatabaseEuropeSub18498T=0.892C=0.107
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.918C=0.081
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.925C=0.074
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.887C=0.113
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs177352150.000275nicotine smoking19268276

eQTL of rs17735215 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 rs17735215 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 )
chr118429905284299159E067-39125
chr118429918384299274E067-39010
chr118429905284299159E068-39125
chr118429918384299274E068-39010
chr118430176084301810E068-36474
chr118430193184302049E068-36235
chr118431905384319351E068-18933
chr118438640284386456E06848118
chr118438654484386673E06848260
chr118431937684320310E069-17974
chr118436657484366624E07028290
chr118436662784366724E07028343
chr118436686784367254E07028583
chr118438654484386673E07248260
chr118438689884387015E07248614
chr118430546984305521E081-32763
chr118430578984306100E081-32184
chr118430619784306274E081-32010
chr118435684584356958E08118561
chr118435699484357044E08118710
chr118435716384357286E08118879
chr118435729084357462E08119006
chr118435925584359305E08120971
chr118435938784359516E08121103
chr118435955484359801E08121270
chr118435982084359954E08121536
chr118436011184360265E08121827
chr118436074484360944E08122460
chr118436595184366001E08127667
chr118438330184383377E08145017






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr118429141084291858E068-46426
chr118429141084291858E069-46426
chr118429141084291858E071-46426
chr118429141084291858E072-46426
chr118429141084291858E074-46426