rs3749804

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

KIAA1191 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0467 (13980/29938,GnomAD)
A==0476 (13882/29118,TOPMED)
G=0488 (2446/5008,1000G)
A==0418 (1612/3854,ALSPAC)
A==0426 (1578/3708,TWINSUK)

Position: chr5:176349152 (GRCh38.p7) (5q35.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 27 Enhancers around

Promoter: 39 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.176349152A>G
GRCh37.p13 chr 5	NC_000005.9:g.175776155A>G

Molecule type	Change	Amino acid[Codon]	SO Term
KIAA1191 transcript variant 2	NM_001079684.2:c.	N/A	Intron Variant
KIAA1191 transcript variant 3	NM_001079685.2:c.	N/A	Intron Variant
KIAA1191 transcript variant 4	NM_001287335.1:c.	N/A	Intron Variant
KIAA1191 transcript variant 5	NM_001287336.1:c.	N/A	Intron Variant
KIAA1191 transcript variant 1	NM_020444.4:c.	N/A	Intron Variant
KIAA1191 transcript variant 6	NR_109796.1:n.	N/A	Intron Variant
KIAA1191 transcript variant 7	NR_109797.1:n.	N/A	Intron Variant
KIAA1191 transcript variant 8	NR_109798.1:n.	N/A	Intron Variant
KIAA1191 transcript variant 9	NR_109799.1:n.	N/A	Intron Variant
KIAA1191 transcript variant 10	NR_109800.1:n.	N/A	Intron Variant
KIAA1191 transcript variant X3	XM_005265941.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X7	XM_005265945.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X1	XM_005265946.4:c.	N/A	Intron Variant
KIAA1191 transcript variant X5	XM_011534595.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X6	XM_011534596.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X2	XM_017009651.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X4	XM_017009652.1:c.	N/A	Intron Variant
KIAA1191 transcript variant X8	XM_017009653.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.535	G=0.465
1000Genomes	American	Sub	694	A=0.540	G=0.460
1000Genomes	East Asian	Sub	1008	A=0.468	G=0.532
1000Genomes	Europe	Sub	1006	A=0.419	G=0.581
1000Genomes	Global	Study-wide	5008	A=0.512	G=0.488
1000Genomes	South Asian	Sub	978	A=0.600	G=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.418	G=0.582
The Genome Aggregation Database	African	Sub	8714	A=0.530	G=0.470
The Genome Aggregation Database	American	Sub	836	A=0.520	G=0.480
The Genome Aggregation Database	East Asian	Sub	1610	A=0.462	G=0.538
The Genome Aggregation Database	Europe	Sub	18476	A=0.436	G=0.564
The Genome Aggregation Database	Global	Study-wide	29938	A=0.467	G=0.533
The Genome Aggregation Database	Other	Sub	302	A=0.410	G=0.590
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.476	G=0.523
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.426	G=0.574

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs3749804	0.0000354	alcoholism	pha002891
rs3749804	0.0000354	alcohol dependence	20201924

eQTL of rs3749804 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr5:175776155	RP11-844P9.3	ENSG00000251667.1	A>G	2.0263e-4	41089	Cerebellum
Chr5:175776155	RP11-826N14.4	ENSG00000251623.1	A>G	1.0592e-8	211995	Cortex
Chr5:175776155	RP11-826N14.4	ENSG00000251623.1	A>G	5.3199e-8	211995	Cerebellar_Hemisphere
Chr5:175776155	SIMC1	ENSG00000170085.13	A>G	4.3720e-6	110790	Nucleus_accumbens_basal_ganglia

Probe ID	Position	Gene	beta	p-value
cg26620356	chr5:175789238	KIAA1191	-0.0618752378613585	3.1735e-12
cg05970307	chr5:175789566	KIAA1191	-0.0417223210775882	2.9242e-10

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	175789718	175789874	E067	13563
chr5	175813882	175813929	E067	37727
chr5	175782512	175782653	E068	6357
chr5	175782705	175782798	E068	6550
chr5	175782846	175782955	E068	6691
chr5	175783053	175783244	E068	6898
chr5	175783053	175783244	E069	6898
chr5	175783053	175783244	E070	6898
chr5	175786741	175787026	E070	10586
chr5	175813882	175813929	E070	37727
chr5	175786741	175787026	E071	10586
chr5	175787427	175787467	E071	11272
chr5	175786741	175787026	E072	10586
chr5	175784607	175784666	E073	8452
chr5	175823617	175823852	E073	47462
chr5	175823938	175824032	E073	47783
chr5	175824121	175824350	E073	47966
chr5	175782846	175782955	E074	6691
chr5	175783053	175783244	E074	6898
chr5	175786741	175787026	E074	10586
chr5	175786741	175787026	E081	10586
chr5	175787427	175787467	E081	11272
chr5	175789718	175789874	E081	13563
chr5	175813882	175813929	E081	37727
chr5	175784607	175784666	E082	8452
chr5	175794869	175794940	E082	18714
chr5	175813882	175813929	E082	37727

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	175787898	175789634	E067	11743
chr5	175791943	175793683	E067	15788
chr5	175814655	175814868	E067	38500
chr5	175814935	175816695	E067	38780
chr5	175787898	175789634	E068	11743
chr5	175791943	175793683	E068	15788
chr5	175814655	175814868	E068	38500
chr5	175814935	175816695	E068	38780
chr5	175787898	175789634	E069	11743
chr5	175791943	175793683	E069	15788
chr5	175814655	175814868	E069	38500
chr5	175814935	175816695	E069	38780
chr5	175787898	175789634	E070	11743
chr5	175791943	175793683	E070	15788
chr5	175814655	175814868	E070	38500
chr5	175814935	175816695	E070	38780
chr5	175787898	175789634	E071	11743
chr5	175791943	175793683	E071	15788
chr5	175814655	175814868	E071	38500
chr5	175814935	175816695	E071	38780
chr5	175787898	175789634	E072	11743
chr5	175791943	175793683	E072	15788
chr5	175814655	175814868	E072	38500
chr5	175814935	175816695	E072	38780
chr5	175787898	175789634	E073	11743
chr5	175791943	175793683	E073	15788
chr5	175814655	175814868	E073	38500
chr5	175814935	175816695	E073	38780
chr5	175787898	175789634	E074	11743
chr5	175791943	175793683	E074	15788
chr5	175814655	175814868	E074	38500
chr5	175814935	175816695	E074	38780
chr5	175787898	175789634	E081	11743
chr5	175814655	175814868	E081	38500
chr5	175814935	175816695	E081	38780
chr5	175787898	175789634	E082	11743
chr5	175791943	175793683	E082	15788
chr5	175814655	175814868	E082	38500
chr5	175814935	175816695	E082	38780