rs4656355

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

NOS1AP : Intron Variant
LOC105371475 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0393 (11464/29118,TOPMED)
G=0447 (12786/28584,GnomAD)
G=0317 (1589/5008,1000G)
A==0371 (1428/3854,ALSPAC)
A==0378 (1402/3708,TWINSUK)

Position: chr1:162154007 (GRCh38.p7) (1q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 294 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.162154007A>G
GRCh37.p13 chr 1	NC_000001.10:g.162123797A>G
NOS1AP RefSeqGene	NG_015979.1:g.89217A>G

Gene: NOS1AP, nitric oxide synthase 1 adaptor protein(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NOS1AP transcript variant 3	NM_001164757.1:c.	N/A	Intron Variant
NOS1AP transcript variant 1	NM_014697.2:c.	N/A	Intron Variant
NOS1AP transcript variant 2	NM_001126060.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC105371475, uncharacterized LOC105371475(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105371475 transcript variant X3	XR_001738271.1:n.	N/A	Intron Variant
LOC105371475 transcript variant X5	XR_001738272.1:n.	N/A	Intron Variant
LOC105371475 transcript variant X1	XR_922216.2:n.	N/A	Genic Downstream Transcript Variant
LOC105371475 transcript variant X2	XR_922218.2:n.	N/A	Genic Downstream Transcript Variant
LOC105371475 transcript variant X4	XR_922222.2:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.953	G=0.047
1000Genomes	American	Sub	694	A=0.440	G=0.560
1000Genomes	East Asian	Sub	1008	A=0.778	G=0.222
1000Genomes	Europe	Sub	1006	A=0.389	G=0.611
1000Genomes	Global	Study-wide	5008	A=0.683	G=0.317
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.371	G=0.629
The Genome Aggregation Database	African	Sub	8516	A=0.870	G=0.130
The Genome Aggregation Database	American	Sub	794	A=0.400	G=0.600
The Genome Aggregation Database	East Asian	Sub	1606	A=0.758	G=0.242
The Genome Aggregation Database	Europe	Sub	17368	A=0.385	G=0.614
The Genome Aggregation Database	Global	Study-wide	28584	A=0.552	G=0.447
The Genome Aggregation Database	Other	Sub	300	A=0.510	G=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.606	G=0.393
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.378	G=0.622

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
21685173	Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.	Westaway SK	Circ Cardiovasc Genet
26384012	Association of NOS1AP variants and depression phenotypes in schizophrenia.	Cheah SY	J Affect Disord

P-Value

SNP ID	p-value	Traits	Study
rs4656355	0.00093	alcohol dependence	20201924

eQTL of rs4656355 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:162123797	NOS1AP	ENSG00000198929.8	A>G	1.7837e-17	84233	Cerebellum
Chr1:162123797	NOS1AP	ENSG00000198929.8	A>G	3.9359e-7	84233	Cerebellar_Hemisphere

meQTL of rs4656355 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 )
chr1	162086694	162086736	E067	-37061
chr1	162086836	162086925	E067	-36872
chr1	162087139	162087372	E067	-36425
chr1	162087638	162087705	E067	-36092
chr1	162088045	162088113	E067	-35684
chr1	162104855	162104957	E067	-18840
chr1	162106349	162106421	E067	-17376
chr1	162106656	162106860	E067	-16937
chr1	162106917	162107075	E067	-16722
chr1	162114207	162114257	E067	-9540
chr1	162114431	162115027	E067	-8770
chr1	162115105	162116116	E067	-7681
chr1	162116128	162116384	E067	-7413
chr1	162117642	162117856	E067	-5941
chr1	162117928	162118177	E067	-5620
chr1	162118727	162118767	E067	-5030
chr1	162127156	162127246	E067	3359
chr1	162127286	162127340	E067	3489
chr1	162127357	162127495	E067	3560
chr1	162129367	162129561	E067	5570
chr1	162135178	162135232	E067	11381
chr1	162135472	162135580	E067	11675
chr1	162135783	162135891	E067	11986
chr1	162137844	162137889	E067	14047
chr1	162138157	162138320	E067	14360
chr1	162138655	162138749	E067	14858
chr1	162138876	162139412	E067	15079
chr1	162139546	162139683	E067	15749
chr1	162157440	162158172	E067	33643
chr1	162158298	162158460	E067	34501
chr1	162087139	162087372	E068	-36425
chr1	162088045	162088113	E068	-35684
chr1	162089391	162089435	E068	-34362
chr1	162106917	162107075	E068	-16722
chr1	162107405	162107483	E068	-16314
chr1	162109120	162109451	E068	-14346
chr1	162114431	162115027	E068	-8770
chr1	162115105	162116116	E068	-7681
chr1	162126976	162127111	E068	3179
chr1	162127156	162127246	E068	3359
chr1	162127286	162127340	E068	3489
chr1	162127357	162127495	E068	3560
chr1	162135178	162135232	E068	11381
chr1	162135472	162135580	E068	11675
chr1	162135783	162135891	E068	11986
chr1	162137844	162137889	E068	14047
chr1	162138157	162138320	E068	14360
chr1	162138655	162138749	E068	14858
chr1	162157440	162158172	E068	33643
chr1	162081273	162081323	E069	-42474
chr1	162083034	162083261	E069	-40536
chr1	162083298	162083459	E069	-40338
chr1	162084095	162084274	E069	-39523
chr1	162086694	162086736	E069	-37061
chr1	162086836	162086925	E069	-36872
chr1	162087139	162087372	E069	-36425
chr1	162087638	162087705	E069	-36092
chr1	162088045	162088113	E069	-35684
chr1	162107669	162107713	E069	-16084
chr1	162109120	162109451	E069	-14346
chr1	162114431	162115027	E069	-8770
chr1	162116128	162116384	E069	-7413
chr1	162127156	162127246	E069	3359
chr1	162127286	162127340	E069	3489
chr1	162127357	162127495	E069	3560
chr1	162135178	162135232	E069	11381
chr1	162135472	162135580	E069	11675
chr1	162135783	162135891	E069	11986
chr1	162136724	162136816	E069	12927
chr1	162136866	162136910	E069	13069
chr1	162136939	162137011	E069	13142
chr1	162137033	162137194	E069	13236
chr1	162137224	162137290	E069	13427
chr1	162137844	162137889	E069	14047
chr1	162138157	162138320	E069	14360
chr1	162138655	162138749	E069	14858
chr1	162138876	162139412	E069	15079
chr1	162139546	162139683	E069	15749
chr1	162157440	162158172	E069	33643
chr1	162158298	162158460	E069	34501
chr1	162162620	162163329	E069	38823
chr1	162163364	162163537	E069	39567
chr1	162163729	162163838	E069	39932
chr1	162164234	162164308	E069	40437
chr1	162164374	162164498	E069	40577
chr1	162114207	162114257	E070	-9540
chr1	162115105	162116116	E070	-7681
chr1	162116128	162116384	E070	-7413
chr1	162126684	162126792	E070	2887
chr1	162126976	162127111	E070	3179
chr1	162127156	162127246	E070	3359
chr1	162127286	162127340	E070	3489
chr1	162127357	162127495	E070	3560
chr1	162135178	162135232	E070	11381
chr1	162135472	162135580	E070	11675
chr1	162135783	162135891	E070	11986
chr1	162136724	162136816	E070	12927
chr1	162138157	162138320	E070	14360
chr1	162138655	162138749	E070	14858
chr1	162138876	162139412	E070	15079
chr1	162145217	162145485	E070	21420
chr1	162145553	162145671	E070	21756
chr1	162150366	162150447	E070	26569
chr1	162150456	162150839	E070	26659
chr1	162157440	162158172	E070	33643
chr1	162158298	162158460	E070	34501
chr1	162162620	162163329	E070	38823
chr1	162163364	162163537	E070	39567
chr1	162163729	162163838	E070	39932
chr1	162166846	162167039	E070	43049
chr1	162167088	162167288	E070	43291
chr1	162167311	162167414	E070	43514
chr1	162167426	162167627	E070	43629
chr1	162167763	162168152	E070	43966
chr1	162168155	162168415	E070	44358
chr1	162169083	162169343	E070	45286
chr1	162077840	162078073	E071	-45724
chr1	162081273	162081323	E071	-42474
chr1	162083034	162083261	E071	-40536
chr1	162083298	162083459	E071	-40338
chr1	162084095	162084274	E071	-39523
chr1	162086694	162086736	E071	-37061
chr1	162086836	162086925	E071	-36872
chr1	162087139	162087372	E071	-36425
chr1	162087638	162087705	E071	-36092
chr1	162088045	162088113	E071	-35684
chr1	162089391	162089435	E071	-34362
chr1	162089524	162089602	E071	-34195
chr1	162089683	162089838	E071	-33959
chr1	162109120	162109451	E071	-14346
chr1	162114207	162114257	E071	-9540
chr1	162114431	162115027	E071	-8770
chr1	162115105	162116116	E071	-7681
chr1	162116128	162116384	E071	-7413
chr1	162127156	162127246	E071	3359
chr1	162127286	162127340	E071	3489
chr1	162127357	162127495	E071	3560
chr1	162135178	162135232	E071	11381
chr1	162135472	162135580	E071	11675
chr1	162135783	162135891	E071	11986
chr1	162138157	162138320	E071	14360
chr1	162138655	162138749	E071	14858
chr1	162138876	162139412	E071	15079
chr1	162157440	162158172	E071	33643
chr1	162158298	162158460	E071	34501
chr1	162161205	162161534	E071	37408
chr1	162161565	162162265	E071	37768
chr1	162162620	162163329	E071	38823
chr1	162163364	162163537	E071	39567
chr1	162163729	162163838	E071	39932
chr1	162077840	162078073	E072	-45724
chr1	162081273	162081323	E072	-42474
chr1	162086836	162086925	E072	-36872
chr1	162087139	162087372	E072	-36425
chr1	162087638	162087705	E072	-36092
chr1	162088045	162088113	E072	-35684
chr1	162106917	162107075	E072	-16722
chr1	162107405	162107483	E072	-16314
chr1	162107669	162107713	E072	-16084
chr1	162109120	162109451	E072	-14346
chr1	162116128	162116384	E072	-7413
chr1	162126976	162127111	E072	3179
chr1	162127156	162127246	E072	3359
chr1	162127286	162127340	E072	3489
chr1	162127357	162127495	E072	3560
chr1	162135178	162135232	E072	11381
chr1	162135472	162135580	E072	11675
chr1	162135783	162135891	E072	11986
chr1	162137033	162137194	E072	13236
chr1	162137224	162137290	E072	13427
chr1	162137844	162137889	E072	14047
chr1	162138655	162138749	E072	14858
chr1	162138876	162139412	E072	15079
chr1	162139546	162139683	E072	15749
chr1	162157440	162158172	E072	33643
chr1	162158298	162158460	E072	34501
chr1	162163364	162163537	E072	39567
chr1	162163729	162163838	E072	39932
chr1	162081273	162081323	E073	-42474
chr1	162083034	162083261	E073	-40536
chr1	162086694	162086736	E073	-37061
chr1	162087638	162087705	E073	-36092
chr1	162114431	162115027	E073	-8770
chr1	162115105	162116116	E073	-7681
chr1	162116128	162116384	E073	-7413
chr1	162117642	162117856	E073	-5941
chr1	162117928	162118177	E073	-5620
chr1	162135472	162135580	E073	11675
chr1	162135783	162135891	E073	11986
chr1	162137224	162137290	E073	13427
chr1	162137844	162137889	E073	14047
chr1	162138157	162138320	E073	14360
chr1	162138655	162138749	E073	14858
chr1	162138876	162139412	E073	15079
chr1	162157440	162158172	E073	33643
chr1	162163364	162163537	E073	39567
chr1	162163729	162163838	E073	39932
chr1	162077840	162078073	E074	-45724
chr1	162078366	162078483	E074	-45314
chr1	162083034	162083261	E074	-40536
chr1	162083298	162083459	E074	-40338
chr1	162084095	162084274	E074	-39523
chr1	162086694	162086736	E074	-37061
chr1	162086836	162086925	E074	-36872
chr1	162087139	162087372	E074	-36425
chr1	162087638	162087705	E074	-36092
chr1	162088045	162088113	E074	-35684
chr1	162101295	162101509	E074	-22288
chr1	162101543	162101715	E074	-22082
chr1	162101730	162102105	E074	-21692
chr1	162107405	162107483	E074	-16314
chr1	162107669	162107713	E074	-16084
chr1	162108003	162108199	E074	-15598
chr1	162109120	162109451	E074	-14346
chr1	162110054	162110144	E074	-13653
chr1	162114207	162114257	E074	-9540
chr1	162114431	162115027	E074	-8770
chr1	162115105	162116116	E074	-7681
chr1	162116128	162116384	E074	-7413
chr1	162127156	162127246	E074	3359
chr1	162127286	162127340	E074	3489
chr1	162127357	162127495	E074	3560
chr1	162128769	162128903	E074	4972
chr1	162129020	162129121	E074	5223
chr1	162129367	162129561	E074	5570
chr1	162135178	162135232	E074	11381
chr1	162135472	162135580	E074	11675
chr1	162135783	162135891	E074	11986
chr1	162136724	162136816	E074	12927
chr1	162136866	162136910	E074	13069
chr1	162136939	162137011	E074	13142
chr1	162137033	162137194	E074	13236
chr1	162137224	162137290	E074	13427
chr1	162137844	162137889	E074	14047
chr1	162138157	162138320	E074	14360
chr1	162138655	162138749	E074	14858
chr1	162138876	162139412	E074	15079
chr1	162139546	162139683	E074	15749
chr1	162157440	162158172	E074	33643
chr1	162158298	162158460	E074	34501
chr1	162162620	162163329	E074	38823
chr1	162163364	162163537	E074	39567
chr1	162163729	162163838	E074	39932
chr1	162164234	162164308	E074	40437
chr1	162164374	162164498	E074	40577
chr1	162107405	162107483	E081	-16314
chr1	162114431	162115027	E081	-8770
chr1	162115105	162116116	E081	-7681
chr1	162116128	162116384	E081	-7413
chr1	162126976	162127111	E081	3179
chr1	162127156	162127246	E081	3359
chr1	162127286	162127340	E081	3489
chr1	162127357	162127495	E081	3560
chr1	162132524	162132610	E081	8727
chr1	162133260	162133828	E081	9463
chr1	162133901	162134038	E081	10104
chr1	162138157	162138320	E081	14360
chr1	162138655	162138749	E081	14858
chr1	162145217	162145485	E081	21420
chr1	162145553	162145671	E081	21756
chr1	162157440	162158172	E081	33643
chr1	162158298	162158460	E081	34501
chr1	162162620	162163329	E081	38823
chr1	162163364	162163537	E081	39567
chr1	162163729	162163838	E081	39932
chr1	162164234	162164308	E081	40437
chr1	162164374	162164498	E081	40577
chr1	162166327	162166443	E081	42530
chr1	162166846	162167039	E081	43049
chr1	162167088	162167288	E081	43291
chr1	162167311	162167414	E081	43514
chr1	162105196	162105285	E082	-18512
chr1	162114431	162115027	E082	-8770
chr1	162115105	162116116	E082	-7681
chr1	162116128	162116384	E082	-7413
chr1	162126976	162127111	E082	3179
chr1	162127156	162127246	E082	3359
chr1	162127286	162127340	E082	3489
chr1	162127357	162127495	E082	3560
chr1	162135472	162135580	E082	11675
chr1	162135783	162135891	E082	11986
chr1	162138157	162138320	E082	14360
chr1	162138655	162138749	E082	14858
chr1	162157440	162158172	E082	33643
chr1	162158298	162158460	E082	34501
chr1	162162620	162163329	E082	38823
chr1	162163364	162163537	E082	39567
chr1	162163729	162163838	E082	39932
chr1	162164234	162164308	E082	40437
chr1	162164374	162164498	E082	40577
chr1	162167088	162167288	E082	43291
chr1	162167311	162167414	E082	43514
chr1	162167426	162167627	E082	43629
chr1	162167763	162168152	E082	43966