rs4759814

Homo sapiens
T>G
ADGRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0201 (6042/29926,GnomAD)
T==0283 (8246/29118,TOPMED)
T==0228 (1140/5008,1000G)
T==0053 (205/3854,ALSPAC)
T==0059 (218/3708,TWINSUK)
chr12:130970676 (GRCh38.p7) (12q24.33)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.130970676T>G
GRCh37.p13 chr 12NC_000012.11:g.131455221T>G

Gene: ADGRD1, adhesion G protein-coupled receptor D1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADGRD1 transcriptNM_198827.3:c.N/AIntron Variant
ADGRD1 transcript variant X4XM_005253566.2:c.N/AIntron Variant
ADGRD1 transcript variant X1XM_011538203.2:c.N/AIntron Variant
ADGRD1 transcript variant X1XM_011538204.2:c.N/AIntron Variant
ADGRD1 transcript variant X2XM_011538205.2:c.N/AIntron Variant
ADGRD1 transcript variant X3XM_011538206.2:c.N/AIntron Variant
ADGRD1 transcript variant X5XM_011538207.2:c.N/AIntron Variant
ADGRD1 transcript variant X6XM_011538208.2:c.N/AIntron Variant
ADGRD1 transcript variant X7XM_011538209.2:c.N/AIntron Variant
ADGRD1 transcript variant X8XM_011538210.2:c.N/AIntron Variant
ADGRD1 transcript variant X9XM_011538211.2:c.N/AGenic Upstream Transcript Variant
ADGRD1 transcript variant X10XM_011538212.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.635G=0.365
1000GenomesAmericanSub694T=0.110G=0.890
1000GenomesEast AsianSub1008T=0.056G=0.944
1000GenomesEuropeSub1006T=0.060G=0.940
1000GenomesGlobalStudy-wide5008T=0.228G=0.772
1000GenomesSouth AsianSub978T=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.053G=0.947
The Genome Aggregation DatabaseAfricanSub8686T=0.559G=0.441
The Genome Aggregation DatabaseAmericanSub838T=0.090G=0.910
The Genome Aggregation DatabaseEast AsianSub1618T=0.041G=0.959
The Genome Aggregation DatabaseEuropeSub18482T=0.054G=0.945
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.201G=0.798
The Genome Aggregation DatabaseOtherSub302T=0.100G=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.283G=0.716
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.059G=0.941
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs47598149.6E-06alcohol dependence23942779

eQTL of rs4759814 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 rs4759814 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 )
chr12131431049131431124E067-24097
chr12131467857131468577E06712636
chr12131487416131487485E06732195
chr12131487651131487745E06732430
chr12131417497131417577E068-37644
chr12131417622131417701E068-37520
chr12131466687131467068E06811466
chr12131467594131467843E06812373
chr12131467857131468577E06812636
chr12131491585131492799E06836364
chr12131409582131410552E069-44669
chr12131410624131410845E069-44376
chr12131417497131417577E069-37644
chr12131417622131417701E069-37520
chr12131467594131467843E06912373
chr12131467857131468577E06912636
chr12131468892131468946E06913671
chr12131468963131469003E06913742
chr12131469142131469209E06913921
chr12131470383131470518E06915162
chr12131487331131487385E06932110
chr12131487960131488521E06932739
chr12131487960131488521E07032739
chr12131491493131491558E07036272
chr12131491585131492799E07036364
chr12131500331131500399E07045110
chr12131500618131500876E07045397
chr12131500966131501074E07045745
chr12131505109131505169E07049888
chr12131409582131410552E071-44669
chr12131446195131446301E071-8920
chr12131467359131467409E07112138
chr12131467516131467570E07112295
chr12131467594131467843E07112373
chr12131467857131468577E07112636
chr12131468892131468946E07113671
chr12131468963131469003E07113742
chr12131491585131492799E07136364
chr12131409582131410552E072-44669
chr12131417497131417577E072-37644
chr12131417622131417701E072-37520
chr12131467594131467843E07212373
chr12131467857131468577E07212636
chr12131486498131487200E07231277
chr12131487331131487385E07232110
chr12131487416131487485E07232195
chr12131487651131487745E07232430
chr12131490850131490938E07235629
chr12131417497131417577E073-37644
chr12131417622131417701E073-37520
chr12131487331131487385E07332110
chr12131487416131487485E07332195
chr12131487651131487745E07332430
chr12131490850131490938E07335629
chr12131491018131491068E07335797
chr12131491493131491558E07336272
chr12131491585131492799E07336364
chr12131409582131410552E074-44669
chr12131410624131410845E074-44376
chr12131467857131468577E07412636
chr12131491585131492799E07436364
chr12131432036131432089E081-23132
chr12131432098131432182E081-23039
chr12131432244131432299E081-22922
chr12131432514131432577E081-22644
chr12131432705131433473E081-21748
chr12131443239131443573E081-11648
chr12131487331131487385E08132110
chr12131487416131487485E08132195
chr12131487651131487745E08132430
chr12131487960131488521E08132739
chr12131489089131489206E08133868
chr12131490042131490233E08134821
chr12131490245131490331E08135024
chr12131490850131490938E08135629
chr12131491018131491068E08135797
chr12131491493131491558E08136272
chr12131491585131492799E08136364
chr12131493285131493389E08138064
chr12131493842131493992E08138621
chr12131494172131494286E08138951
chr12131494646131494902E08139425
chr12131495025131495313E08139804
chr12131505109131505169E08149888
chr12131412812131413513E082-41708
chr12131473201131473540E08217980
chr12131473557131473687E08218336
chr12131473689131474072E08218468
chr12131487331131487385E08232110
chr12131487416131487485E08232195
chr12131487651131487745E08232430
chr12131487960131488521E08232739
chr12131489089131489206E08233868
chr12131491585131492799E08236364
chr12131493285131493389E08238064
chr12131493842131493992E08238621
chr12131494172131494286E08238951
chr12131494646131494902E08239425
chr12131500331131500399E08245110
chr12131500618131500876E08245397
chr12131500966131501074E08245745
chr12131505109131505169E08249888










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12131439814131440164E072-15057