rs11145948

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0431 (12889/29892,GnomAD)
A=0378 (11025/29118,TOPMED)
A=0344 (1723/5008,1000G)
G==0482 (1859/3854,ALSPAC)
G==0481 (1782/3708,TWINSUK)

Position: chr9:136963460 (GRCh38.p7) (9q34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 407 Enhancers around

Promoter: 32 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.136963460G>A
GRCh37.p13 chr 9	NC_000009.11:g.139857912G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.824	A=0.176
1000Genomes	American	Sub	694	G=0.440	A=0.560
1000Genomes	East Asian	Sub	1008	G=0.832	A=0.168
1000Genomes	Europe	Sub	1006	G=0.481	A=0.519
1000Genomes	Global	Study-wide	5008	G=0.656	A=0.344
1000Genomes	South Asian	Sub	978	G=0.580	A=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.482	A=0.518
The Genome Aggregation Database	African	Sub	8714	G=0.753	A=0.247
The Genome Aggregation Database	American	Sub	838	G=0.450	A=0.550
The Genome Aggregation Database	East Asian	Sub	1614	G=0.859	A=0.141
The Genome Aggregation Database	Europe	Sub	18424	G=0.461	A=0.538
The Genome Aggregation Database	Global	Study-wide	29892	G=0.568	A=0.431
The Genome Aggregation Database	Other	Sub	302	G=0.610	A=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.621	A=0.378
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.481	A=0.519

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
rs11145948	0.000252	alcohol dependence	21314694

eQTL of rs11145948 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr9:139857912	C9orf142	ENSG00000148362.6	G>A	2.3000e-27	-28958	Cerebellum

meQTL of rs11145948 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 )
chr9	139822692	139823185	E067	-34727
chr9	139831166	139831291	E067	-26621
chr9	139831314	139831364	E067	-26548
chr9	139831685	139831739	E067	-26173
chr9	139831912	139831960	E067	-25952
chr9	139832039	139832099	E067	-25813
chr9	139832148	139832303	E067	-25609
chr9	139834527	139835206	E067	-22706
chr9	139841423	139842961	E067	-14951
chr9	139843141	139843217	E067	-14695
chr9	139843400	139843477	E067	-14435
chr9	139855584	139856155	E067	-1757
chr9	139856243	139856392	E067	-1520
chr9	139856495	139856762	E067	-1150
chr9	139856936	139857011	E067	-901
chr9	139857247	139857550	E067	-362
chr9	139857556	139857626	E067	-286
chr9	139857648	139857814	E067	-98
chr9	139857921	139858156	E067	9
chr9	139858196	139858318	E067	284
chr9	139858567	139858633	E067	655
chr9	139858825	139859134	E067	913
chr9	139859210	139859275	E067	1298
chr9	139859393	139859495	E067	1481
chr9	139859543	139859771	E067	1631
chr9	139859858	139859906	E067	1946
chr9	139860018	139860069	E067	2106
chr9	139869297	139869791	E067	11385
chr9	139869795	139870667	E067	11883
chr9	139870709	139870777	E067	12797
chr9	139870845	139870946	E067	12933
chr9	139870984	139871077	E067	13072
chr9	139871188	139871242	E067	13276
chr9	139871310	139871373	E067	13398
chr9	139874272	139874425	E067	16360
chr9	139874442	139874545	E067	16530
chr9	139874550	139874676	E067	16638
chr9	139874682	139875067	E067	16770
chr9	139875076	139875135	E067	17164
chr9	139875164	139875291	E067	17252
chr9	139875350	139875493	E067	17438
chr9	139875507	139875685	E067	17595
chr9	139878043	139878255	E067	20131
chr9	139878256	139878325	E067	20344
chr9	139878331	139878511	E067	20419
chr9	139878538	139878634	E067	20626
chr9	139878737	139878882	E067	20825
chr9	139817455	139817557	E068	-40355
chr9	139833910	139834241	E068	-23671
chr9	139834283	139834380	E068	-23532
chr9	139834527	139835206	E068	-22706
chr9	139841423	139842961	E068	-14951
chr9	139843141	139843217	E068	-14695
chr9	139843400	139843477	E068	-14435
chr9	139845505	139845662	E068	-12250
chr9	139855584	139856155	E068	-1757
chr9	139856243	139856392	E068	-1520
chr9	139857247	139857550	E068	-362
chr9	139857556	139857626	E068	-286
chr9	139857648	139857814	E068	-98
chr9	139857921	139858156	E068	9
chr9	139858825	139859134	E068	913
chr9	139869297	139869791	E068	11385
chr9	139869795	139870667	E068	11883
chr9	139870709	139870777	E068	12797
chr9	139870845	139870946	E068	12933
chr9	139870984	139871077	E068	13072
chr9	139871188	139871242	E068	13276
chr9	139871310	139871373	E068	13398
chr9	139874059	139874225	E068	16147
chr9	139874272	139874425	E068	16360
chr9	139874442	139874545	E068	16530
chr9	139874550	139874676	E068	16638
chr9	139874682	139875067	E068	16770
chr9	139875076	139875135	E068	17164
chr9	139875164	139875291	E068	17252
chr9	139875350	139875493	E068	17438
chr9	139875698	139875748	E068	17786
chr9	139877050	139877145	E068	19138
chr9	139877189	139877646	E068	19277
chr9	139877777	139877854	E068	19865
chr9	139877865	139877909	E068	19953
chr9	139878043	139878255	E068	20131
chr9	139878256	139878325	E068	20344
chr9	139878331	139878511	E068	20419
chr9	139878538	139878634	E068	20626
chr9	139878737	139878882	E068	20825
chr9	139889893	139890006	E068	31981
chr9	139890027	139893224	E068	32115
chr9	139901605	139902037	E068	43693
chr9	139902313	139902492	E068	44401
chr9	139902707	139902949	E068	44795
chr9	139834527	139835206	E069	-22706
chr9	139835280	139835362	E069	-22550
chr9	139837462	139837558	E069	-20354
chr9	139841423	139842961	E069	-14951
chr9	139843400	139843477	E069	-14435
chr9	139855130	139855579	E069	-2333
chr9	139855584	139856155	E069	-1757
chr9	139856243	139856392	E069	-1520
chr9	139856495	139856762	E069	-1150
chr9	139856936	139857011	E069	-901
chr9	139857247	139857550	E069	-362
chr9	139857556	139857626	E069	-286
chr9	139857648	139857814	E069	-98
chr9	139857921	139858156	E069	9
chr9	139858196	139858318	E069	284
chr9	139858567	139858633	E069	655
chr9	139858825	139859134	E069	913
chr9	139859210	139859275	E069	1298
chr9	139859393	139859495	E069	1481
chr9	139860208	139860970	E069	2296
chr9	139869795	139870667	E069	11883
chr9	139870709	139870777	E069	12797
chr9	139870845	139870946	E069	12933
chr9	139870984	139871077	E069	13072
chr9	139874272	139874425	E069	16360
chr9	139874442	139874545	E069	16530
chr9	139874550	139874676	E069	16638
chr9	139874682	139875067	E069	16770
chr9	139875076	139875135	E069	17164
chr9	139875164	139875291	E069	17252
chr9	139875350	139875493	E069	17438
chr9	139875507	139875685	E069	17595
chr9	139878043	139878255	E069	20131
chr9	139878256	139878325	E069	20344
chr9	139878331	139878511	E069	20419
chr9	139878538	139878634	E069	20626
chr9	139878737	139878882	E069	20825
chr9	139888216	139888777	E069	30304
chr9	139900993	139901375	E069	43081
chr9	139901605	139902037	E069	43693
chr9	139902313	139902492	E069	44401
chr9	139902707	139902949	E069	44795
chr9	139903997	139904046	E069	46085
chr9	139904144	139904300	E069	46232
chr9	139904309	139904420	E069	46397
chr9	139904432	139904540	E069	46520
chr9	139904585	139904635	E069	46673
chr9	139904655	139904784	E069	46743
chr9	139905112	139905280	E069	47200
chr9	139905373	139905445	E069	47461
chr9	139837306	139837399	E070	-20513
chr9	139837462	139837558	E070	-20354
chr9	139888216	139888777	E070	30304
chr9	139888841	139888938	E070	30929
chr9	139888963	139889081	E070	31051
chr9	139889893	139890006	E070	31981
chr9	139890027	139893224	E070	32115
chr9	139900993	139901375	E070	43081
chr9	139901605	139902037	E070	43693
chr9	139902313	139902492	E070	44401
chr9	139833910	139834241	E071	-23671
chr9	139834283	139834380	E071	-23532
chr9	139834527	139835206	E071	-22706
chr9	139835280	139835362	E071	-22550
chr9	139835401	139835882	E071	-22030
chr9	139836519	139837290	E071	-20622
chr9	139837306	139837399	E071	-20513
chr9	139841423	139842961	E071	-14951
chr9	139843141	139843217	E071	-14695
chr9	139843400	139843477	E071	-14435
chr9	139855584	139856155	E071	-1757
chr9	139856243	139856392	E071	-1520
chr9	139856495	139856762	E071	-1150
chr9	139856936	139857011	E071	-901
chr9	139857247	139857550	E071	-362
chr9	139857556	139857626	E071	-286
chr9	139857648	139857814	E071	-98
chr9	139857921	139858156	E071	9
chr9	139858196	139858318	E071	284
chr9	139858567	139858633	E071	655
chr9	139858825	139859134	E071	913
chr9	139860208	139860970	E071	2296
chr9	139869297	139869791	E071	11385
chr9	139869795	139870667	E071	11883
chr9	139870709	139870777	E071	12797
chr9	139870845	139870946	E071	12933
chr9	139870984	139871077	E071	13072
chr9	139871188	139871242	E071	13276
chr9	139871310	139871373	E071	13398
chr9	139874682	139875067	E071	16770
chr9	139875076	139875135	E071	17164
chr9	139875164	139875291	E071	17252
chr9	139875350	139875493	E071	17438
chr9	139875507	139875685	E071	17595
chr9	139875698	139875748	E071	17786
chr9	139875878	139875970	E071	17966
chr9	139876002	139876336	E071	18090
chr9	139876461	139876511	E071	18549
chr9	139876582	139876688	E071	18670
chr9	139876770	139877005	E071	18858
chr9	139877050	139877145	E071	19138
chr9	139877189	139877646	E071	19277
chr9	139877777	139877854	E071	19865
chr9	139877865	139877909	E071	19953
chr9	139878043	139878255	E071	20131
chr9	139878256	139878325	E071	20344
chr9	139878331	139878511	E071	20419
chr9	139878538	139878634	E071	20626
chr9	139878737	139878882	E071	20825
chr9	139888216	139888777	E071	30304
chr9	139889893	139890006	E071	31981
chr9	139890027	139893224	E071	32115
chr9	139900993	139901375	E071	43081
chr9	139901605	139902037	E071	43693
chr9	139902313	139902492	E071	44401
chr9	139902707	139902949	E071	44795
chr9	139903997	139904046	E071	46085
chr9	139904144	139904300	E071	46232
chr9	139904309	139904420	E071	46397
chr9	139904432	139904540	E071	46520
chr9	139904585	139904635	E071	46673
chr9	139906159	139906209	E071	48247
chr9	139906339	139906389	E071	48427
chr9	139906463	139906575	E071	48551
chr9	139906596	139906656	E071	48684
chr9	139906862	139906947	E071	48950
chr9	139906984	139907034	E071	49072
chr9	139907244	139907299	E071	49332
chr9	139907323	139907367	E071	49411
chr9	139810691	139810817	E072	-47095
chr9	139810835	139810885	E072	-47027
chr9	139810940	139811075	E072	-46837
chr9	139831166	139831291	E072	-26621
chr9	139831314	139831364	E072	-26548
chr9	139831685	139831739	E072	-26173
chr9	139831912	139831960	E072	-25952
chr9	139832039	139832099	E072	-25813
chr9	139832148	139832303	E072	-25609
chr9	139832341	139832574	E072	-25338
chr9	139833910	139834241	E072	-23671
chr9	139834283	139834380	E072	-23532
chr9	139834527	139835206	E072	-22706
chr9	139835280	139835362	E072	-22550
chr9	139837462	139837558	E072	-20354
chr9	139840062	139841383	E072	-16529
chr9	139841423	139842961	E072	-14951
chr9	139845505	139845662	E072	-12250
chr9	139845698	139845787	E072	-12125
chr9	139845872	139846040	E072	-11872
chr9	139846153	139846277	E072	-11635
chr9	139855130	139855579	E072	-2333
chr9	139855584	139856155	E072	-1757
chr9	139856243	139856392	E072	-1520
chr9	139856495	139856762	E072	-1150
chr9	139856936	139857011	E072	-901
chr9	139857247	139857550	E072	-362
chr9	139857556	139857626	E072	-286
chr9	139857648	139857814	E072	-98
chr9	139857921	139858156	E072	9
chr9	139858196	139858318	E072	284
chr9	139869297	139869791	E072	11385
chr9	139869795	139870667	E072	11883
chr9	139870709	139870777	E072	12797
chr9	139870845	139870946	E072	12933
chr9	139870984	139871077	E072	13072
chr9	139871188	139871242	E072	13276
chr9	139871310	139871373	E072	13398
chr9	139874272	139874425	E072	16360
chr9	139874442	139874545	E072	16530
chr9	139874550	139874676	E072	16638
chr9	139874682	139875067	E072	16770
chr9	139875076	139875135	E072	17164
chr9	139875164	139875291	E072	17252
chr9	139875350	139875493	E072	17438
chr9	139875507	139875685	E072	17595
chr9	139875698	139875748	E072	17786
chr9	139877050	139877145	E072	19138
chr9	139877189	139877646	E072	19277
chr9	139877777	139877854	E072	19865
chr9	139877865	139877909	E072	19953
chr9	139878043	139878255	E072	20131
chr9	139878256	139878325	E072	20344
chr9	139878331	139878511	E072	20419
chr9	139878538	139878634	E072	20626
chr9	139878737	139878882	E072	20825
chr9	139889893	139890006	E072	31981
chr9	139890027	139893224	E072	32115
chr9	139900993	139901375	E072	43081
chr9	139901605	139902037	E072	43693
chr9	139902313	139902492	E072	44401
chr9	139902707	139902949	E072	44795
chr9	139822692	139823185	E073	-34727
chr9	139831912	139831960	E073	-25952
chr9	139832039	139832099	E073	-25813
chr9	139832148	139832303	E073	-25609
chr9	139832341	139832574	E073	-25338
chr9	139834283	139834380	E073	-23532
chr9	139834527	139835206	E073	-22706
chr9	139835280	139835362	E073	-22550
chr9	139835401	139835882	E073	-22030
chr9	139836007	139836083	E073	-21829
chr9	139836148	139836223	E073	-21689
chr9	139836301	139836476	E073	-21436
chr9	139836519	139837290	E073	-20622
chr9	139837306	139837399	E073	-20513
chr9	139837462	139837558	E073	-20354
chr9	139841423	139842961	E073	-14951
chr9	139843141	139843217	E073	-14695
chr9	139843400	139843477	E073	-14435
chr9	139845505	139845662	E073	-12250
chr9	139845698	139845787	E073	-12125
chr9	139845872	139846040	E073	-11872
chr9	139846153	139846277	E073	-11635
chr9	139853549	139853622	E073	-4290
chr9	139853662	139853731	E073	-4181
chr9	139853766	139853922	E073	-3990
chr9	139855584	139856155	E073	-1757
chr9	139856243	139856392	E073	-1520
chr9	139856495	139856762	E073	-1150
chr9	139856936	139857011	E073	-901
chr9	139857247	139857550	E073	-362
chr9	139858196	139858318	E073	284
chr9	139863342	139863427	E073	5430
chr9	139863436	139863480	E073	5524
chr9	139863560	139863633	E073	5648
chr9	139867372	139867441	E073	9460
chr9	139867788	139867893	E073	9876
chr9	139869297	139869791	E073	11385
chr9	139869795	139870667	E073	11883
chr9	139870709	139870777	E073	12797
chr9	139870845	139870946	E073	12933
chr9	139870984	139871077	E073	13072
chr9	139871188	139871242	E073	13276
chr9	139871310	139871373	E073	13398
chr9	139874550	139874676	E073	16638
chr9	139874682	139875067	E073	16770
chr9	139875076	139875135	E073	17164
chr9	139875164	139875291	E073	17252
chr9	139875350	139875493	E073	17438
chr9	139875507	139875685	E073	17595
chr9	139875698	139875748	E073	17786
chr9	139875878	139875970	E073	17966
chr9	139876770	139877005	E073	18858
chr9	139877050	139877145	E073	19138
chr9	139877189	139877646	E073	19277
chr9	139877777	139877854	E073	19865
chr9	139877865	139877909	E073	19953
chr9	139878043	139878255	E073	20131
chr9	139878256	139878325	E073	20344
chr9	139878331	139878511	E073	20419
chr9	139878538	139878634	E073	20626
chr9	139878737	139878882	E073	20825
chr9	139889893	139890006	E073	31981
chr9	139900993	139901375	E073	43081
chr9	139901605	139902037	E073	43693
chr9	139902313	139902492	E073	44401
chr9	139902707	139902949	E073	44795
chr9	139834527	139835206	E074	-22706
chr9	139835280	139835362	E074	-22550
chr9	139837306	139837399	E074	-20513
chr9	139837462	139837558	E074	-20354
chr9	139841423	139842961	E074	-14951
chr9	139843141	139843217	E074	-14695
chr9	139843400	139843477	E074	-14435
chr9	139855584	139856155	E074	-1757
chr9	139856243	139856392	E074	-1520
chr9	139857247	139857550	E074	-362
chr9	139857556	139857626	E074	-286
chr9	139857648	139857814	E074	-98
chr9	139857921	139858156	E074	9
chr9	139858196	139858318	E074	284
chr9	139869795	139870667	E074	11883
chr9	139870845	139870946	E074	12933
chr9	139870984	139871077	E074	13072
chr9	139871188	139871242	E074	13276
chr9	139871310	139871373	E074	13398
chr9	139874059	139874225	E074	16147
chr9	139874272	139874425	E074	16360
chr9	139874442	139874545	E074	16530
chr9	139874550	139874676	E074	16638
chr9	139874682	139875067	E074	16770
chr9	139875076	139875135	E074	17164
chr9	139875164	139875291	E074	17252
chr9	139875350	139875493	E074	17438
chr9	139875507	139875685	E074	17595
chr9	139875698	139875748	E074	17786
chr9	139876770	139877005	E074	18858
chr9	139877050	139877145	E074	19138
chr9	139877189	139877646	E074	19277
chr9	139877777	139877854	E074	19865
chr9	139877865	139877909	E074	19953
chr9	139878043	139878255	E074	20131
chr9	139878256	139878325	E074	20344
chr9	139878331	139878511	E074	20419
chr9	139878538	139878634	E074	20626
chr9	139878737	139878882	E074	20825
chr9	139902313	139902492	E074	44401
chr9	139902707	139902949	E074	44795
chr9	139904144	139904300	E074	46232
chr9	139904309	139904420	E074	46397
chr9	139904432	139904540	E074	46520
chr9	139904585	139904635	E074	46673
chr9	139904655	139904784	E074	46743
chr9	139837306	139837399	E081	-20513
chr9	139837462	139837558	E081	-20354
chr9	139845505	139845662	E081	-12250
chr9	139888216	139888777	E081	30304
chr9	139888841	139888938	E081	30929
chr9	139888963	139889081	E081	31051
chr9	139889893	139890006	E081	31981
chr9	139890027	139893224	E081	32115
chr9	139888216	139888777	E082	30304
chr9	139888841	139888938	E082	30929
chr9	139888963	139889081	E082	31051
chr9	139889893	139890006	E082	31981

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr9	139837656	139840035	E067	-17877
chr9	139843512	139845441	E067	-12471
chr9	139873765	139874052	E067	15853
chr9	139886246	139887670	E067	28334
chr9	139837656	139840035	E068	-17877
chr9	139843512	139845441	E068	-12471
chr9	139873765	139874052	E068	15853
chr9	139886246	139887670	E068	28334
chr9	139837656	139840035	E069	-17877
chr9	139843512	139845441	E069	-12471
chr9	139886246	139887670	E069	28334
chr9	139837656	139840035	E070	-17877
chr9	139843512	139845441	E070	-12471
chr9	139886246	139887670	E070	28334
chr9	139837656	139840035	E071	-17877
chr9	139843512	139845441	E071	-12471
chr9	139886246	139887670	E071	28334
chr9	139837656	139840035	E072	-17877
chr9	139843512	139845441	E072	-12471
chr9	139873765	139874052	E072	15853
chr9	139886246	139887670	E072	28334
chr9	139837656	139840035	E073	-17877
chr9	139843512	139845441	E073	-12471
chr9	139873765	139874052	E073	15853
chr9	139886246	139887670	E073	28334
chr9	139837656	139840035	E074	-17877
chr9	139843512	139845441	E074	-12471
chr9	139873765	139874052	E074	15853
chr9	139886246	139887670	E074	28334
chr9	139837656	139840035	E082	-17877
chr9	139843512	139845441	E082	-12471
chr9	139886246	139887670	E082	28334