rs4759814

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

ADGRD1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

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)

Position: chr12:130970676 (GRCh38.p7) (12q24.33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 102 Enhancers around

Promoter: 1 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

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

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

Molecule type	Change	Amino acid[Codon]	SO Term
ADGRD1 transcript	NM_198827.3:c.	N/A	Intron Variant
ADGRD1 transcript variant X4	XM_005253566.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X1	XM_011538203.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X1	XM_011538204.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X2	XM_011538205.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X3	XM_011538206.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X5	XM_011538207.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X6	XM_011538208.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X7	XM_011538209.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X8	XM_011538210.2:c.	N/A	Intron Variant
ADGRD1 transcript variant X9	XM_011538211.2:c.	N/A	Genic Upstream Transcript Variant
ADGRD1 transcript variant X10	XM_011538212.2:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.635	G=0.365
1000Genomes	American	Sub	694	T=0.110	G=0.890
1000Genomes	East Asian	Sub	1008	T=0.056	G=0.944
1000Genomes	Europe	Sub	1006	T=0.060	G=0.940
1000Genomes	Global	Study-wide	5008	T=0.228	G=0.772
1000Genomes	South Asian	Sub	978	T=0.110	G=0.890
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.053	G=0.947
The Genome Aggregation Database	African	Sub	8686	T=0.559	G=0.441
The Genome Aggregation Database	American	Sub	838	T=0.090	G=0.910
The Genome Aggregation Database	East Asian	Sub	1618	T=0.041	G=0.959
The Genome Aggregation Database	Europe	Sub	18482	T=0.054	G=0.945
The Genome Aggregation Database	Global	Study-wide	29926	T=0.201	G=0.798
The Genome Aggregation Database	Other	Sub	302	T=0.100	G=0.900
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.283	G=0.716
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.059	G=0.941

PMID	Title	Author	Journal
23942779	A genome-wide association study of behavioral disinhibition.	McGue M	Behav Genet

P-Value

SNP ID	p-value	Traits	Study
rs4759814	9.6E-06	alcohol dependence	23942779

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 )
chr12	131431049	131431124	E067	-24097
chr12	131467857	131468577	E067	12636
chr12	131487416	131487485	E067	32195
chr12	131487651	131487745	E067	32430
chr12	131417497	131417577	E068	-37644
chr12	131417622	131417701	E068	-37520
chr12	131466687	131467068	E068	11466
chr12	131467594	131467843	E068	12373
chr12	131467857	131468577	E068	12636
chr12	131491585	131492799	E068	36364
chr12	131409582	131410552	E069	-44669
chr12	131410624	131410845	E069	-44376
chr12	131417497	131417577	E069	-37644
chr12	131417622	131417701	E069	-37520
chr12	131467594	131467843	E069	12373
chr12	131467857	131468577	E069	12636
chr12	131468892	131468946	E069	13671
chr12	131468963	131469003	E069	13742
chr12	131469142	131469209	E069	13921
chr12	131470383	131470518	E069	15162
chr12	131487331	131487385	E069	32110
chr12	131487960	131488521	E069	32739
chr12	131487960	131488521	E070	32739
chr12	131491493	131491558	E070	36272
chr12	131491585	131492799	E070	36364
chr12	131500331	131500399	E070	45110
chr12	131500618	131500876	E070	45397
chr12	131500966	131501074	E070	45745
chr12	131505109	131505169	E070	49888
chr12	131409582	131410552	E071	-44669
chr12	131446195	131446301	E071	-8920
chr12	131467359	131467409	E071	12138
chr12	131467516	131467570	E071	12295
chr12	131467594	131467843	E071	12373
chr12	131467857	131468577	E071	12636
chr12	131468892	131468946	E071	13671
chr12	131468963	131469003	E071	13742
chr12	131491585	131492799	E071	36364
chr12	131409582	131410552	E072	-44669
chr12	131417497	131417577	E072	-37644
chr12	131417622	131417701	E072	-37520
chr12	131467594	131467843	E072	12373
chr12	131467857	131468577	E072	12636
chr12	131486498	131487200	E072	31277
chr12	131487331	131487385	E072	32110
chr12	131487416	131487485	E072	32195
chr12	131487651	131487745	E072	32430
chr12	131490850	131490938	E072	35629
chr12	131417497	131417577	E073	-37644
chr12	131417622	131417701	E073	-37520
chr12	131487331	131487385	E073	32110
chr12	131487416	131487485	E073	32195
chr12	131487651	131487745	E073	32430
chr12	131490850	131490938	E073	35629
chr12	131491018	131491068	E073	35797
chr12	131491493	131491558	E073	36272
chr12	131491585	131492799	E073	36364
chr12	131409582	131410552	E074	-44669
chr12	131410624	131410845	E074	-44376
chr12	131467857	131468577	E074	12636
chr12	131491585	131492799	E074	36364
chr12	131432036	131432089	E081	-23132
chr12	131432098	131432182	E081	-23039
chr12	131432244	131432299	E081	-22922
chr12	131432514	131432577	E081	-22644
chr12	131432705	131433473	E081	-21748
chr12	131443239	131443573	E081	-11648
chr12	131487331	131487385	E081	32110
chr12	131487416	131487485	E081	32195
chr12	131487651	131487745	E081	32430
chr12	131487960	131488521	E081	32739
chr12	131489089	131489206	E081	33868
chr12	131490042	131490233	E081	34821
chr12	131490245	131490331	E081	35024
chr12	131490850	131490938	E081	35629
chr12	131491018	131491068	E081	35797
chr12	131491493	131491558	E081	36272
chr12	131491585	131492799	E081	36364
chr12	131493285	131493389	E081	38064
chr12	131493842	131493992	E081	38621
chr12	131494172	131494286	E081	38951
chr12	131494646	131494902	E081	39425
chr12	131495025	131495313	E081	39804
chr12	131505109	131505169	E081	49888
chr12	131412812	131413513	E082	-41708
chr12	131473201	131473540	E082	17980
chr12	131473557	131473687	E082	18336
chr12	131473689	131474072	E082	18468
chr12	131487331	131487385	E082	32110
chr12	131487416	131487485	E082	32195
chr12	131487651	131487745	E082	32430
chr12	131487960	131488521	E082	32739
chr12	131489089	131489206	E082	33868
chr12	131491585	131492799	E082	36364
chr12	131493285	131493389	E082	38064
chr12	131493842	131493992	E082	38621
chr12	131494172	131494286	E082	38951
chr12	131494646	131494902	E082	39425
chr12	131500331	131500399	E082	45110
chr12	131500618	131500876	E082	45397
chr12	131500966	131501074	E082	45745
chr12	131505109	131505169	E082	49888

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	131439814	131440164	E072	-15057