rs12418187

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

PRR5L : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0104 (3115/29934,GnomAD)
T=0149 (4341/29118,TOPMED)
T=0103 (515/5008,1000G)
T=0042 (162/3854,ALSPAC)
T=0045 (166/3708,TWINSUK)

Position: chr11:36334692 (GRCh38.p7) (11p13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 428 Enhancers around

Promoter: 38 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.36334692C>T
GRCh37.p13 chr 11	NC_000011.9:g.36356242C>T

Gene: PRR5L, proline rich 5 like(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRR5L transcript variant 1	NM_001160167.1:c.	N/A	Intron Variant
PRR5L transcript variant 3	NM_001160168.1:c.	N/A	Genic Upstream Transcript Variant
PRR5L transcript variant 4	NM_001160169.1:c.	N/A	Genic Upstream Transcript Variant
PRR5L transcript variant 2	NM_024841.4:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.694	T=0.306
1000Genomes	American	Sub	694	C=0.960	T=0.040
1000Genomes	East Asian	Sub	1008	C=1.000	T=0.000
1000Genomes	Europe	Sub	1006	C=0.956	T=0.044
1000Genomes	Global	Study-wide	5008	C=0.897	T=0.103
1000Genomes	South Asian	Sub	978	C=0.960	T=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.958	T=0.042
The Genome Aggregation Database	African	Sub	8688	C=0.731	T=0.269
The Genome Aggregation Database	American	Sub	838	C=0.970	T=0.030
The Genome Aggregation Database	East Asian	Sub	1620	C=0.998	T=0.002
The Genome Aggregation Database	Europe	Sub	18486	C=0.960	T=0.039
The Genome Aggregation Database	Global	Study-wide	29934	C=0.895	T=0.104
The Genome Aggregation Database	Other	Sub	302	C=0.950	T=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.850	T=0.149
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.955	T=0.045

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs12418187	0.000129	alcohol dependence	21314694

eQTL of rs12418187 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 rs12418187 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 )
chr11	36309327	36309377	E067	-46865
chr11	36309596	36309732	E067	-46510
chr11	36309830	36309906	E067	-46336
chr11	36309932	36309982	E067	-46260
chr11	36311948	36312012	E067	-44230
chr11	36313705	36314299	E067	-41943
chr11	36314323	36314457	E067	-41785
chr11	36316692	36316763	E067	-39479
chr11	36316818	36316915	E067	-39327
chr11	36317168	36317218	E067	-39024
chr11	36317277	36317362	E067	-38880
chr11	36319593	36319670	E067	-36572
chr11	36319717	36319796	E067	-36446
chr11	36320816	36320883	E067	-35359
chr11	36321228	36321278	E067	-34964
chr11	36321450	36321561	E067	-34681
chr11	36321774	36321867	E067	-34375
chr11	36322234	36322592	E067	-33650
chr11	36322618	36322681	E067	-33561
chr11	36322727	36322823	E067	-33419
chr11	36322899	36322978	E067	-33264
chr11	36322980	36323104	E067	-33138
chr11	36333756	36333869	E067	-22373
chr11	36333883	36334881	E067	-21361
chr11	36334995	36335233	E067	-21009
chr11	36335369	36335496	E067	-20746
chr11	36335597	36335647	E067	-20595
chr11	36335792	36335945	E067	-20297
chr11	36335961	36336334	E067	-19908
chr11	36340347	36340516	E067	-15726
chr11	36340543	36340587	E067	-15655
chr11	36340673	36340793	E067	-15449
chr11	36340821	36340871	E067	-15371
chr11	36340995	36341079	E067	-15163
chr11	36341102	36341226	E067	-15016
chr11	36361205	36361255	E067	4963
chr11	36361516	36361691	E067	5274
chr11	36361786	36361896	E067	5544
chr11	36361979	36362019	E067	5737
chr11	36362067	36362281	E067	5825
chr11	36363638	36363711	E067	7396
chr11	36364027	36364143	E067	7785
chr11	36381601	36381976	E067	25359
chr11	36382013	36382169	E067	25771
chr11	36382240	36382845	E067	25998
chr11	36393785	36393994	E067	37543
chr11	36393997	36394234	E067	37755
chr11	36394325	36394955	E067	38083
chr11	36394963	36395095	E067	38721
chr11	36400276	36400326	E067	44034
chr11	36400570	36400663	E067	44328
chr11	36401668	36401788	E067	45426
chr11	36401825	36401895	E067	45583
chr11	36404019	36404230	E067	47777
chr11	36404253	36404317	E067	48011
chr11	36404594	36404663	E067	48352
chr11	36404723	36404773	E067	48481
chr11	36311948	36312012	E068	-44230
chr11	36312321	36312385	E068	-43857
chr11	36313705	36314299	E068	-41943
chr11	36314323	36314457	E068	-41785
chr11	36316692	36316763	E068	-39479
chr11	36316818	36316915	E068	-39327
chr11	36317168	36317218	E068	-39024
chr11	36317277	36317362	E068	-38880
chr11	36319593	36319670	E068	-36572
chr11	36319717	36319796	E068	-36446
chr11	36321774	36321867	E068	-34375
chr11	36322234	36322592	E068	-33650
chr11	36322618	36322681	E068	-33561
chr11	36322727	36322823	E068	-33419
chr11	36322899	36322978	E068	-33264
chr11	36322980	36323104	E068	-33138
chr11	36333883	36334881	E068	-21361
chr11	36334995	36335233	E068	-21009
chr11	36335369	36335496	E068	-20746
chr11	36335597	36335647	E068	-20595
chr11	36356011	36356061	E068	-181
chr11	36356180	36356257	E068	0
chr11	36361205	36361255	E068	4963
chr11	36361516	36361691	E068	5274
chr11	36361786	36361896	E068	5544
chr11	36361979	36362019	E068	5737
chr11	36370945	36371434	E068	14703
chr11	36371463	36371585	E068	15221
chr11	36373987	36374910	E068	17745
chr11	36382013	36382169	E068	25771
chr11	36382240	36382845	E068	25998
chr11	36393997	36394234	E068	37755
chr11	36394325	36394955	E068	38083
chr11	36400276	36400326	E068	44034
chr11	36400570	36400663	E068	44328
chr11	36403161	36403253	E068	46919
chr11	36404019	36404230	E068	47777
chr11	36404253	36404317	E068	48011
chr11	36311948	36312012	E069	-44230
chr11	36313705	36314299	E069	-41943
chr11	36314323	36314457	E069	-41785
chr11	36316692	36316763	E069	-39479
chr11	36316818	36316915	E069	-39327
chr11	36319717	36319796	E069	-36446
chr11	36320816	36320883	E069	-35359
chr11	36321228	36321278	E069	-34964
chr11	36321450	36321561	E069	-34681
chr11	36321774	36321867	E069	-34375
chr11	36322234	36322592	E069	-33650
chr11	36322618	36322681	E069	-33561
chr11	36322727	36322823	E069	-33419
chr11	36322899	36322978	E069	-33264
chr11	36322980	36323104	E069	-33138
chr11	36323665	36323709	E069	-32533
chr11	36333883	36334881	E069	-21361
chr11	36340347	36340516	E069	-15726
chr11	36340543	36340587	E069	-15655
chr11	36340673	36340793	E069	-15449
chr11	36342732	36342889	E069	-13353
chr11	36342948	36343017	E069	-13225
chr11	36343208	36343278	E069	-12964
chr11	36353236	36353280	E069	-2962
chr11	36361205	36361255	E069	4963
chr11	36361516	36361691	E069	5274
chr11	36361786	36361896	E069	5544
chr11	36361979	36362019	E069	5737
chr11	36362067	36362281	E069	5825
chr11	36362544	36362833	E069	6302
chr11	36362852	36362958	E069	6610
chr11	36363638	36363711	E069	7396
chr11	36364027	36364143	E069	7785
chr11	36364575	36364699	E069	8333
chr11	36364716	36364766	E069	8474
chr11	36364898	36364957	E069	8656
chr11	36364978	36365395	E069	8736
chr11	36370945	36371434	E069	14703
chr11	36373987	36374910	E069	17745
chr11	36375296	36375360	E069	19054
chr11	36375405	36375553	E069	19163
chr11	36375578	36375824	E069	19336
chr11	36375935	36376146	E069	19693
chr11	36376194	36376560	E069	19952
chr11	36376585	36376772	E069	20343
chr11	36377551	36377601	E069	21309
chr11	36377864	36378022	E069	21622
chr11	36382013	36382169	E069	25771
chr11	36382240	36382845	E069	25998
chr11	36393997	36394234	E069	37755
chr11	36394325	36394955	E069	38083
chr11	36401668	36401788	E069	45426
chr11	36401825	36401895	E069	45583
chr11	36402006	36402068	E069	45764
chr11	36402965	36403015	E069	46723
chr11	36403071	36403125	E069	46829
chr11	36403161	36403253	E069	46919
chr11	36404019	36404230	E069	47777
chr11	36404253	36404317	E069	48011
chr11	36404594	36404663	E069	48352
chr11	36404723	36404773	E069	48481
chr11	36404876	36405002	E069	48634
chr11	36309596	36309732	E070	-46510
chr11	36309830	36309906	E070	-46336
chr11	36309932	36309982	E070	-46260
chr11	36322234	36322592	E070	-33650
chr11	36322618	36322681	E070	-33561
chr11	36322727	36322823	E070	-33419
chr11	36309327	36309377	E071	-46865
chr11	36309596	36309732	E071	-46510
chr11	36311948	36312012	E071	-44230
chr11	36312321	36312385	E071	-43857
chr11	36312460	36312510	E071	-43732
chr11	36312687	36312898	E071	-43344
chr11	36316692	36316763	E071	-39479
chr11	36316818	36316915	E071	-39327
chr11	36317168	36317218	E071	-39024
chr11	36317277	36317362	E071	-38880
chr11	36320816	36320883	E071	-35359
chr11	36321228	36321278	E071	-34964
chr11	36321450	36321561	E071	-34681
chr11	36321774	36321867	E071	-34375
chr11	36322899	36322978	E071	-33264
chr11	36322980	36323104	E071	-33138
chr11	36325805	36325887	E071	-30355
chr11	36325911	36326200	E071	-30042
chr11	36333756	36333869	E071	-22373
chr11	36333883	36334881	E071	-21361
chr11	36334995	36335233	E071	-21009
chr11	36335369	36335496	E071	-20746
chr11	36335961	36336334	E071	-19908
chr11	36336371	36336431	E071	-19811
chr11	36336443	36336519	E071	-19723
chr11	36336573	36336684	E071	-19558
chr11	36337123	36337312	E071	-18930
chr11	36337449	36337634	E071	-18608
chr11	36337707	36337852	E071	-18390
chr11	36340347	36340516	E071	-15726
chr11	36340543	36340587	E071	-15655
chr11	36340673	36340793	E071	-15449
chr11	36340821	36340871	E071	-15371
chr11	36340995	36341079	E071	-15163
chr11	36341102	36341226	E071	-15016
chr11	36361516	36361691	E071	5274
chr11	36361786	36361896	E071	5544
chr11	36361979	36362019	E071	5737
chr11	36362067	36362281	E071	5825
chr11	36362544	36362833	E071	6302
chr11	36362852	36362958	E071	6610
chr11	36363638	36363711	E071	7396
chr11	36364027	36364143	E071	7785
chr11	36364575	36364699	E071	8333
chr11	36364716	36364766	E071	8474
chr11	36364898	36364957	E071	8656
chr11	36364978	36365395	E071	8736
chr11	36373987	36374910	E071	17745
chr11	36376194	36376560	E071	19952
chr11	36376585	36376772	E071	20343
chr11	36378355	36378405	E071	22113
chr11	36378456	36378552	E071	22214
chr11	36378641	36378691	E071	22399
chr11	36378877	36378927	E071	22635
chr11	36378929	36378979	E071	22687
chr11	36378987	36379057	E071	22745
chr11	36379171	36379245	E071	22929
chr11	36381187	36381247	E071	24945
chr11	36381452	36381502	E071	25210
chr11	36381601	36381976	E071	25359
chr11	36382013	36382169	E071	25771
chr11	36382240	36382845	E071	25998
chr11	36383118	36383986	E071	26876
chr11	36384054	36385662	E071	27812
chr11	36393785	36393994	E071	37543
chr11	36393997	36394234	E071	37755
chr11	36394325	36394955	E071	38083
chr11	36394963	36395095	E071	38721
chr11	36396407	36396569	E071	40165
chr11	36396849	36396946	E071	40607
chr11	36396963	36397193	E071	40721
chr11	36400276	36400326	E071	44034
chr11	36400570	36400663	E071	44328
chr11	36403161	36403253	E071	46919
chr11	36404019	36404230	E071	47777
chr11	36404253	36404317	E071	48011
chr11	36404594	36404663	E071	48352
chr11	36404723	36404773	E071	48481
chr11	36404876	36405002	E071	48634
chr11	36311948	36312012	E072	-44230
chr11	36316692	36316763	E072	-39479
chr11	36316818	36316915	E072	-39327
chr11	36317168	36317218	E072	-39024
chr11	36317277	36317362	E072	-38880
chr11	36320816	36320883	E072	-35359
chr11	36321228	36321278	E072	-34964
chr11	36321450	36321561	E072	-34681
chr11	36321774	36321867	E072	-34375
chr11	36322234	36322592	E072	-33650
chr11	36322618	36322681	E072	-33561
chr11	36322727	36322823	E072	-33419
chr11	36322899	36322978	E072	-33264
chr11	36322980	36323104	E072	-33138
chr11	36333756	36333869	E072	-22373
chr11	36339718	36339824	E072	-16418
chr11	36340042	36340133	E072	-16109
chr11	36340347	36340516	E072	-15726
chr11	36340543	36340587	E072	-15655
chr11	36340673	36340793	E072	-15449
chr11	36340821	36340871	E072	-15371
chr11	36340995	36341079	E072	-15163
chr11	36341102	36341226	E072	-15016
chr11	36361205	36361255	E072	4963
chr11	36361516	36361691	E072	5274
chr11	36361786	36361896	E072	5544
chr11	36361979	36362019	E072	5737
chr11	36362067	36362281	E072	5825
chr11	36362544	36362833	E072	6302
chr11	36362852	36362958	E072	6610
chr11	36363638	36363711	E072	7396
chr11	36364027	36364143	E072	7785
chr11	36364575	36364699	E072	8333
chr11	36364716	36364766	E072	8474
chr11	36364898	36364957	E072	8656
chr11	36373987	36374910	E072	17745
chr11	36375296	36375360	E072	19054
chr11	36375405	36375553	E072	19163
chr11	36375578	36375824	E072	19336
chr11	36375935	36376146	E072	19693
chr11	36376194	36376560	E072	19952
chr11	36376585	36376772	E072	20343
chr11	36376785	36376990	E072	20543
chr11	36381187	36381247	E072	24945
chr11	36381452	36381502	E072	25210
chr11	36381601	36381976	E072	25359
chr11	36382013	36382169	E072	25771
chr11	36382240	36382845	E072	25998
chr11	36393785	36393994	E072	37543
chr11	36393997	36394234	E072	37755
chr11	36394325	36394955	E072	38083
chr11	36400276	36400326	E072	44034
chr11	36400570	36400663	E072	44328
chr11	36404019	36404230	E072	47777
chr11	36404253	36404317	E072	48011
chr11	36404594	36404663	E072	48352
chr11	36404723	36404773	E072	48481
chr11	36404876	36405002	E072	48634
chr11	36309596	36309732	E073	-46510
chr11	36309830	36309906	E073	-46336
chr11	36309932	36309982	E073	-46260
chr11	36311948	36312012	E073	-44230
chr11	36361516	36361691	E073	5274
chr11	36361786	36361896	E073	5544
chr11	36361979	36362019	E073	5737
chr11	36404019	36404230	E073	47777
chr11	36404253	36404317	E073	48011
chr11	36311948	36312012	E074	-44230
chr11	36312321	36312385	E074	-43857
chr11	36312460	36312510	E074	-43732
chr11	36312687	36312898	E074	-43344
chr11	36313705	36314299	E074	-41943
chr11	36314323	36314457	E074	-41785
chr11	36316692	36316763	E074	-39479
chr11	36316818	36316915	E074	-39327
chr11	36317168	36317218	E074	-39024
chr11	36317277	36317362	E074	-38880
chr11	36320816	36320883	E074	-35359
chr11	36321228	36321278	E074	-34964
chr11	36321450	36321561	E074	-34681
chr11	36321774	36321867	E074	-34375
chr11	36322234	36322592	E074	-33650
chr11	36322618	36322681	E074	-33561
chr11	36322727	36322823	E074	-33419
chr11	36322899	36322978	E074	-33264
chr11	36322980	36323104	E074	-33138
chr11	36325805	36325887	E074	-30355
chr11	36325911	36326200	E074	-30042
chr11	36326330	36326439	E074	-29803
chr11	36328340	36328415	E074	-27827
chr11	36328482	36328943	E074	-27299
chr11	36328979	36329079	E074	-27163
chr11	36329569	36329609	E074	-26633
chr11	36330225	36330458	E074	-25784
chr11	36334995	36335233	E074	-21009
chr11	36335369	36335496	E074	-20746
chr11	36335597	36335647	E074	-20595
chr11	36335792	36335945	E074	-20297
chr11	36335961	36336334	E074	-19908
chr11	36336371	36336431	E074	-19811
chr11	36336443	36336519	E074	-19723
chr11	36336573	36336684	E074	-19558
chr11	36337123	36337312	E074	-18930
chr11	36340042	36340133	E074	-16109
chr11	36340347	36340516	E074	-15726
chr11	36340543	36340587	E074	-15655
chr11	36340673	36340793	E074	-15449
chr11	36340821	36340871	E074	-15371
chr11	36340995	36341079	E074	-15163
chr11	36341102	36341226	E074	-15016
chr11	36356011	36356061	E074	-181
chr11	36356180	36356257	E074	0
chr11	36356452	36356492	E074	210
chr11	36361205	36361255	E074	4963
chr11	36361516	36361691	E074	5274
chr11	36361786	36361896	E074	5544
chr11	36361979	36362019	E074	5737
chr11	36362067	36362281	E074	5825
chr11	36362544	36362833	E074	6302
chr11	36362852	36362958	E074	6610
chr11	36363638	36363711	E074	7396
chr11	36364027	36364143	E074	7785
chr11	36364575	36364699	E074	8333
chr11	36364716	36364766	E074	8474
chr11	36364898	36364957	E074	8656
chr11	36364978	36365395	E074	8736
chr11	36373987	36374910	E074	17745
chr11	36375296	36375360	E074	19054
chr11	36375405	36375553	E074	19163
chr11	36375578	36375824	E074	19336
chr11	36375935	36376146	E074	19693
chr11	36376194	36376560	E074	19952
chr11	36376585	36376772	E074	20343
chr11	36376785	36376990	E074	20543
chr11	36377551	36377601	E074	21309
chr11	36377864	36378022	E074	21622
chr11	36378355	36378405	E074	22113
chr11	36378456	36378552	E074	22214
chr11	36378641	36378691	E074	22399
chr11	36378877	36378927	E074	22635
chr11	36378929	36378979	E074	22687
chr11	36378987	36379057	E074	22745
chr11	36379171	36379245	E074	22929
chr11	36379292	36379365	E074	23050
chr11	36381601	36381976	E074	25359
chr11	36382013	36382169	E074	25771
chr11	36382240	36382845	E074	25998
chr11	36383118	36383986	E074	26876
chr11	36384054	36385662	E074	27812
chr11	36387417	36387858	E074	31175
chr11	36387932	36388044	E074	31690
chr11	36393785	36393994	E074	37543
chr11	36393997	36394234	E074	37755
chr11	36394325	36394955	E074	38083
chr11	36400276	36400326	E074	44034
chr11	36400570	36400663	E074	44328
chr11	36401668	36401788	E074	45426
chr11	36401825	36401895	E074	45583
chr11	36402006	36402068	E074	45764
chr11	36404019	36404230	E074	47777
chr11	36404253	36404317	E074	48011
chr11	36404594	36404663	E074	48352
chr11	36404723	36404773	E074	48481
chr11	36404876	36405002	E074	48634
chr11	36309596	36309732	E081	-46510
chr11	36309830	36309906	E081	-46336
chr11	36309932	36309982	E081	-46260
chr11	36322234	36322592	E081	-33650
chr11	36322618	36322681	E081	-33561
chr11	36322727	36322823	E081	-33419
chr11	36322899	36322978	E081	-33264
chr11	36322980	36323104	E081	-33138
chr11	36361516	36361691	E081	5274
chr11	36361786	36361896	E081	5544
chr11	36361979	36362019	E081	5737
chr11	36362067	36362281	E081	5825
chr11	36309327	36309377	E082	-46865
chr11	36322234	36322592	E082	-33650
chr11	36322618	36322681	E082	-33561
chr11	36322727	36322823	E082	-33419
chr11	36337449	36337634	E082	-18608
chr11	36337707	36337852	E082	-18390
chr11	36361516	36361691	E082	5274
chr11	36361786	36361896	E082	5544
chr11	36361979	36362019	E082	5737
chr11	36383118	36383986	E082	26876

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	36310334	36311535	E067	-44707
chr11	36311580	36311690	E067	-44552
chr11	36317878	36317942	E067	-38300
chr11	36317986	36319130	E067	-37112
chr11	36397367	36400059	E067	41125
chr11	36310334	36311535	E068	-44707
chr11	36311580	36311690	E068	-44552
chr11	36317878	36317942	E068	-38300
chr11	36317986	36319130	E068	-37112
chr11	36397367	36400059	E068	41125
chr11	36310334	36311535	E069	-44707
chr11	36311580	36311690	E069	-44552
chr11	36317878	36317942	E069	-38300
chr11	36317986	36319130	E069	-37112
chr11	36397367	36400059	E069	41125
chr11	36310334	36311535	E070	-44707
chr11	36310334	36311535	E071	-44707
chr11	36317878	36317942	E071	-38300
chr11	36317986	36319130	E071	-37112
chr11	36397367	36400059	E071	41125
chr11	36400113	36400178	E071	43871
chr11	36310334	36311535	E072	-44707
chr11	36311580	36311690	E072	-44552
chr11	36317878	36317942	E072	-38300
chr11	36317986	36319130	E072	-37112
chr11	36397367	36400059	E072	41125
chr11	36310334	36311535	E073	-44707
chr11	36311580	36311690	E073	-44552
chr11	36317878	36317942	E073	-38300
chr11	36317986	36319130	E073	-37112
chr11	36397367	36400059	E073	41125
chr11	36310334	36311535	E074	-44707
chr11	36317878	36317942	E074	-38300
chr11	36317986	36319130	E074	-37112
chr11	36397367	36400059	E074	41125
chr11	36310334	36311535	E081	-44707
chr11	36310334	36311535	E082	-44707
chr11	36397367	36400059	E082	41125