rs9788546

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

C14orf132 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0050 (1517/29960,GnomAD)
G=0054 (1573/29118,TOPMED)
G=0074 (372/5008,1000G)
G=0049 (187/3854,ALSPAC)
G=0049 (183/3708,TWINSUK)

Position: chr14:96059129 (GRCh38.p7) (14q32.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 422 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.96059129T>G
GRCh37.p13 chr 14	NC_000014.8:g.96525466T>G

Gene: C14orf132, chromosome 14 open reading frame 132(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C14orf132 transcript variant 2	NM_001252507.2:c.	N/A	Intron Variant
C14orf132 transcript variant 1	NM_001282463.1:c.	N/A	Intron Variant
C14orf132 transcript variant 3	NM_001282464.1:c.	N/A	Intron Variant
C14orf132 transcript variant 4	NM_001289139.1:c.	N/A	Intron Variant
C14orf132 transcript variant X1	XM_017021469.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.925	G=0.075
1000Genomes	American	Sub	694	T=0.960	G=0.040
1000Genomes	East Asian	Sub	1008	T=0.847	G=0.153
1000Genomes	Europe	Sub	1006	T=0.954	G=0.046
1000Genomes	Global	Study-wide	5008	T=0.926	G=0.074
1000Genomes	South Asian	Sub	978	T=0.950	G=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.951	G=0.049
The Genome Aggregation Database	African	Sub	8724	T=0.938	G=0.062
The Genome Aggregation Database	American	Sub	838	T=0.960	G=0.040
The Genome Aggregation Database	East Asian	Sub	1614	T=0.847	G=0.153
The Genome Aggregation Database	Europe	Sub	18484	T=0.962	G=0.037
The Genome Aggregation Database	Global	Study-wide	29960	T=0.949	G=0.050
The Genome Aggregation Database	Other	Sub	300	T=0.970	G=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.946	G=0.054
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.951	G=0.049

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs9788546	1.67E-05	alcohol consumption	23953852

eQTL of rs9788546 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 rs9788546 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 )
chr14	96493664	96494248	E067	-31218
chr14	96507911	96507961	E067	-17505
chr14	96507993	96508086	E067	-17380
chr14	96509107	96509187	E067	-16279
chr14	96509332	96509382	E067	-16084
chr14	96509554	96509657	E067	-15809
chr14	96509681	96509747	E067	-15719
chr14	96509796	96509856	E067	-15610
chr14	96516465	96516531	E067	-8935
chr14	96516738	96517020	E067	-8446
chr14	96517074	96517156	E067	-8310
chr14	96517210	96517278	E067	-8188
chr14	96517368	96517584	E067	-7882
chr14	96517805	96517886	E067	-7580
chr14	96517969	96518106	E067	-7360
chr14	96518147	96518379	E067	-7087
chr14	96518497	96518642	E067	-6824
chr14	96519392	96519470	E067	-5996
chr14	96519685	96519739	E067	-5727
chr14	96519808	96519852	E067	-5614
chr14	96519935	96520737	E067	-4729
chr14	96520759	96520859	E067	-4607
chr14	96521171	96521400	E067	-4066
chr14	96521439	96521767	E067	-3699
chr14	96521843	96521992	E067	-3474
chr14	96522370	96522875	E067	-2591
chr14	96523158	96523274	E067	-2192
chr14	96523359	96523432	E067	-2034
chr14	96523498	96523618	E067	-1848
chr14	96523669	96523950	E067	-1516
chr14	96527164	96527252	E067	1698
chr14	96527431	96527544	E067	1965
chr14	96531374	96531462	E067	5908
chr14	96531806	96531856	E067	6340
chr14	96532068	96532194	E067	6602
chr14	96532245	96532296	E067	6779
chr14	96532317	96532465	E067	6851
chr14	96532566	96532760	E067	7100
chr14	96544290	96544415	E067	18824
chr14	96544419	96544469	E067	18953
chr14	96544536	96545175	E067	19070
chr14	96551166	96551348	E067	25700
chr14	96551423	96551473	E067	25957
chr14	96551670	96551720	E067	26204
chr14	96551787	96551858	E067	26321
chr14	96556762	96557548	E067	31296
chr14	96557576	96557666	E067	32110
chr14	96557751	96557824	E067	32285
chr14	96557827	96557896	E067	32361
chr14	96557898	96557992	E067	32432
chr14	96566769	96567712	E067	41303
chr14	96493664	96494248	E068	-31218
chr14	96507584	96507877	E068	-17589
chr14	96507911	96507961	E068	-17505
chr14	96507993	96508086	E068	-17380
chr14	96508099	96508152	E068	-17314
chr14	96508441	96508488	E068	-16978
chr14	96508662	96508908	E068	-16558
chr14	96509107	96509187	E068	-16279
chr14	96509332	96509382	E068	-16084
chr14	96509554	96509657	E068	-15809
chr14	96509681	96509747	E068	-15719
chr14	96509796	96509856	E068	-15610
chr14	96511420	96511585	E068	-13881
chr14	96516738	96517020	E068	-8446
chr14	96517074	96517156	E068	-8310
chr14	96517210	96517278	E068	-8188
chr14	96517368	96517584	E068	-7882
chr14	96517805	96517886	E068	-7580
chr14	96517969	96518106	E068	-7360
chr14	96519053	96519351	E068	-6115
chr14	96519392	96519470	E068	-5996
chr14	96519685	96519739	E068	-5727
chr14	96519808	96519852	E068	-5614
chr14	96519935	96520737	E068	-4729
chr14	96520759	96520859	E068	-4607
chr14	96521171	96521400	E068	-4066
chr14	96521439	96521767	E068	-3699
chr14	96521843	96521992	E068	-3474
chr14	96522370	96522875	E068	-2591
chr14	96526694	96526915	E068	1228
chr14	96526974	96527024	E068	1508
chr14	96527164	96527252	E068	1698
chr14	96527431	96527544	E068	1965
chr14	96527712	96527762	E068	2246
chr14	96531806	96531856	E068	6340
chr14	96532068	96532194	E068	6602
chr14	96532245	96532296	E068	6779
chr14	96532317	96532465	E068	6851
chr14	96532566	96532760	E068	7100
chr14	96532968	96533023	E068	7502
chr14	96533355	96533454	E068	7889
chr14	96533542	96533607	E068	8076
chr14	96544290	96544415	E068	18824
chr14	96544419	96544469	E068	18953
chr14	96544536	96545175	E068	19070
chr14	96551670	96551720	E068	26204
chr14	96551787	96551858	E068	26321
chr14	96551888	96552203	E068	26422
chr14	96556296	96556336	E068	30830
chr14	96556387	96556474	E068	30921
chr14	96556762	96557548	E068	31296
chr14	96557576	96557666	E068	32110
chr14	96557751	96557824	E068	32285
chr14	96557827	96557896	E068	32361
chr14	96557898	96557992	E068	32432
chr14	96572372	96572942	E068	46906
chr14	96493664	96494248	E069	-31218
chr14	96507911	96507961	E069	-17505
chr14	96507993	96508086	E069	-17380
chr14	96516738	96517020	E069	-8446
chr14	96517074	96517156	E069	-8310
chr14	96517210	96517278	E069	-8188
chr14	96517368	96517584	E069	-7882
chr14	96517805	96517886	E069	-7580
chr14	96517969	96518106	E069	-7360
chr14	96518147	96518379	E069	-7087
chr14	96519392	96519470	E069	-5996
chr14	96519685	96519739	E069	-5727
chr14	96519808	96519852	E069	-5614
chr14	96519935	96520737	E069	-4729
chr14	96520759	96520859	E069	-4607
chr14	96521171	96521400	E069	-4066
chr14	96521439	96521767	E069	-3699
chr14	96521843	96521992	E069	-3474
chr14	96522370	96522875	E069	-2591
chr14	96523158	96523274	E069	-2192
chr14	96523359	96523432	E069	-2034
chr14	96523498	96523618	E069	-1848
chr14	96526441	96526584	E069	975
chr14	96526694	96526915	E069	1228
chr14	96526974	96527024	E069	1508
chr14	96527164	96527252	E069	1698
chr14	96532068	96532194	E069	6602
chr14	96532245	96532296	E069	6779
chr14	96532317	96532465	E069	6851
chr14	96532566	96532760	E069	7100
chr14	96545278	96545344	E069	19812
chr14	96551670	96551720	E069	26204
chr14	96551787	96551858	E069	26321
chr14	96551888	96552203	E069	26422
chr14	96556296	96556336	E069	30830
chr14	96556387	96556474	E069	30921
chr14	96556762	96557548	E069	31296
chr14	96557576	96557666	E069	32110
chr14	96557751	96557824	E069	32285
chr14	96557827	96557896	E069	32361
chr14	96557898	96557992	E069	32432
chr14	96493150	96493200	E070	-32266
chr14	96508441	96508488	E070	-16978
chr14	96508662	96508908	E070	-16558
chr14	96509107	96509187	E070	-16279
chr14	96516738	96517020	E070	-8446
chr14	96517074	96517156	E070	-8310
chr14	96517805	96517886	E070	-7580
chr14	96522370	96522875	E070	-2591
chr14	96523158	96523274	E070	-2192
chr14	96523359	96523432	E070	-2034
chr14	96523498	96523618	E070	-1848
chr14	96527164	96527252	E070	1698
chr14	96527431	96527544	E070	1965
chr14	96532245	96532296	E070	6779
chr14	96532317	96532465	E070	6851
chr14	96532566	96532760	E070	7100
chr14	96544419	96544469	E070	18953
chr14	96555814	96555895	E070	30348
chr14	96555916	96555966	E070	30450
chr14	96556017	96556104	E070	30551
chr14	96556296	96556336	E070	30830
chr14	96556387	96556474	E070	30921
chr14	96556762	96557548	E070	31296
chr14	96557576	96557666	E070	32110
chr14	96557751	96557824	E070	32285
chr14	96557827	96557896	E070	32361
chr14	96557898	96557992	E070	32432
chr14	96559699	96559749	E070	34233
chr14	96493664	96494248	E071	-31218
chr14	96507584	96507877	E071	-17589
chr14	96507911	96507961	E071	-17505
chr14	96507993	96508086	E071	-17380
chr14	96508099	96508152	E071	-17314
chr14	96508662	96508908	E071	-16558
chr14	96509107	96509187	E071	-16279
chr14	96509332	96509382	E071	-16084
chr14	96509554	96509657	E071	-15809
chr14	96509681	96509747	E071	-15719
chr14	96509796	96509856	E071	-15610
chr14	96510132	96510182	E071	-15284
chr14	96516465	96516531	E071	-8935
chr14	96516738	96517020	E071	-8446
chr14	96517074	96517156	E071	-8310
chr14	96517210	96517278	E071	-8188
chr14	96517368	96517584	E071	-7882
chr14	96517805	96517886	E071	-7580
chr14	96517969	96518106	E071	-7360
chr14	96518147	96518379	E071	-7087
chr14	96518497	96518642	E071	-6824
chr14	96518831	96518883	E071	-6583
chr14	96519053	96519351	E071	-6115
chr14	96519392	96519470	E071	-5996
chr14	96519685	96519739	E071	-5727
chr14	96521171	96521400	E071	-4066
chr14	96521439	96521767	E071	-3699
chr14	96521843	96521992	E071	-3474
chr14	96522370	96522875	E071	-2591
chr14	96523158	96523274	E071	-2192
chr14	96523359	96523432	E071	-2034
chr14	96523498	96523618	E071	-1848
chr14	96523669	96523950	E071	-1516
chr14	96526284	96526334	E071	818
chr14	96526441	96526584	E071	975
chr14	96526694	96526915	E071	1228
chr14	96526974	96527024	E071	1508
chr14	96527164	96527252	E071	1698
chr14	96527431	96527544	E071	1965
chr14	96532068	96532194	E071	6602
chr14	96532245	96532296	E071	6779
chr14	96532317	96532465	E071	6851
chr14	96532566	96532760	E071	7100
chr14	96532968	96533023	E071	7502
chr14	96533355	96533454	E071	7889
chr14	96533542	96533607	E071	8076
chr14	96534127	96534177	E071	8661
chr14	96549837	96549940	E071	24371
chr14	96549948	96550364	E071	24482
chr14	96556017	96556104	E071	30551
chr14	96556762	96557548	E071	31296
chr14	96557576	96557666	E071	32110
chr14	96557751	96557824	E071	32285
chr14	96557827	96557896	E071	32361
chr14	96557898	96557992	E071	32432
chr14	96561861	96562890	E071	36395
chr14	96562912	96563043	E071	37446
chr14	96565063	96565447	E071	39597
chr14	96566478	96566753	E071	41012
chr14	96566769	96567712	E071	41303
chr14	96493664	96494248	E072	-31218
chr14	96508099	96508152	E072	-17314
chr14	96516465	96516531	E072	-8935
chr14	96516738	96517020	E072	-8446
chr14	96517074	96517156	E072	-8310
chr14	96517210	96517278	E072	-8188
chr14	96517368	96517584	E072	-7882
chr14	96517805	96517886	E072	-7580
chr14	96517969	96518106	E072	-7360
chr14	96518147	96518379	E072	-7087
chr14	96518497	96518642	E072	-6824
chr14	96519685	96519739	E072	-5727
chr14	96519808	96519852	E072	-5614
chr14	96521171	96521400	E072	-4066
chr14	96521439	96521767	E072	-3699
chr14	96521843	96521992	E072	-3474
chr14	96522370	96522875	E072	-2591
chr14	96523158	96523274	E072	-2192
chr14	96523359	96523432	E072	-2034
chr14	96526441	96526584	E072	975
chr14	96526694	96526915	E072	1228
chr14	96526974	96527024	E072	1508
chr14	96527164	96527252	E072	1698
chr14	96527431	96527544	E072	1965
chr14	96527712	96527762	E072	2246
chr14	96531274	96531345	E072	5808
chr14	96531374	96531462	E072	5908
chr14	96531806	96531856	E072	6340
chr14	96532068	96532194	E072	6602
chr14	96532245	96532296	E072	6779
chr14	96532317	96532465	E072	6851
chr14	96532566	96532760	E072	7100
chr14	96532968	96533023	E072	7502
chr14	96533355	96533454	E072	7889
chr14	96533542	96533607	E072	8076
chr14	96556296	96556336	E072	30830
chr14	96556387	96556474	E072	30921
chr14	96556762	96557548	E072	31296
chr14	96557576	96557666	E072	32110
chr14	96557751	96557824	E072	32285
chr14	96557827	96557896	E072	32361
chr14	96557898	96557992	E072	32432
chr14	96566125	96566429	E072	40659
chr14	96566478	96566753	E072	41012
chr14	96566769	96567712	E072	41303
chr14	96493664	96494248	E073	-31218
chr14	96496708	96496793	E073	-28673
chr14	96508441	96508488	E073	-16978
chr14	96509332	96509382	E073	-16084
chr14	96509554	96509657	E073	-15809
chr14	96509681	96509747	E073	-15719
chr14	96509796	96509856	E073	-15610
chr14	96517074	96517156	E073	-8310
chr14	96517210	96517278	E073	-8188
chr14	96517368	96517584	E073	-7882
chr14	96519685	96519739	E073	-5727
chr14	96519808	96519852	E073	-5614
chr14	96521171	96521400	E073	-4066
chr14	96521439	96521767	E073	-3699
chr14	96521843	96521992	E073	-3474
chr14	96522370	96522875	E073	-2591
chr14	96526694	96526915	E073	1228
chr14	96526974	96527024	E073	1508
chr14	96527164	96527252	E073	1698
chr14	96531374	96531462	E073	5908
chr14	96531806	96531856	E073	6340
chr14	96532068	96532194	E073	6602
chr14	96532245	96532296	E073	6779
chr14	96532317	96532465	E073	6851
chr14	96532566	96532760	E073	7100
chr14	96533355	96533454	E073	7889
chr14	96533542	96533607	E073	8076
chr14	96534127	96534177	E073	8661
chr14	96535060	96535147	E073	9594
chr14	96544290	96544415	E073	18824
chr14	96544419	96544469	E073	18953
chr14	96544536	96545175	E073	19070
chr14	96556017	96556104	E073	30551
chr14	96556762	96557548	E073	31296
chr14	96557576	96557666	E073	32110
chr14	96557751	96557824	E073	32285
chr14	96565063	96565447	E073	39597
chr14	96566478	96566753	E073	41012
chr14	96566769	96567712	E073	41303
chr14	96493664	96494248	E074	-31218
chr14	96496708	96496793	E074	-28673
chr14	96507911	96507961	E074	-17505
chr14	96507993	96508086	E074	-17380
chr14	96508099	96508152	E074	-17314
chr14	96516738	96517020	E074	-8446
chr14	96517074	96517156	E074	-8310
chr14	96517210	96517278	E074	-8188
chr14	96517368	96517584	E074	-7882
chr14	96517805	96517886	E074	-7580
chr14	96517969	96518106	E074	-7360
chr14	96518147	96518379	E074	-7087
chr14	96518497	96518642	E074	-6824
chr14	96519685	96519739	E074	-5727
chr14	96519808	96519852	E074	-5614
chr14	96519935	96520737	E074	-4729
chr14	96520759	96520859	E074	-4607
chr14	96521171	96521400	E074	-4066
chr14	96521439	96521767	E074	-3699
chr14	96521843	96521992	E074	-3474
chr14	96522370	96522875	E074	-2591
chr14	96523158	96523274	E074	-2192
chr14	96523359	96523432	E074	-2034
chr14	96523498	96523618	E074	-1848
chr14	96523669	96523950	E074	-1516
chr14	96532245	96532296	E074	6779
chr14	96532317	96532465	E074	6851
chr14	96532566	96532760	E074	7100
chr14	96544290	96544415	E074	18824
chr14	96544419	96544469	E074	18953
chr14	96544536	96545175	E074	19070
chr14	96556762	96557548	E074	31296
chr14	96557576	96557666	E074	32110
chr14	96557751	96557824	E074	32285
chr14	96557827	96557896	E074	32361
chr14	96557898	96557992	E074	32432
chr14	96566769	96567712	E074	41303
chr14	96493664	96494248	E081	-31218
chr14	96494761	96494841	E081	-30625
chr14	96495242	96495494	E081	-29972
chr14	96495594	96495837	E081	-29629
chr14	96496530	96496687	E081	-28779
chr14	96496708	96496793	E081	-28673
chr14	96496869	96496935	E081	-28531
chr14	96496978	96497028	E081	-28438
chr14	96504181	96504436	E081	-21030
chr14	96507993	96508086	E081	-17380
chr14	96508099	96508152	E081	-17314
chr14	96508441	96508488	E081	-16978
chr14	96508662	96508908	E081	-16558
chr14	96519808	96519852	E081	-5614
chr14	96526694	96526915	E081	1228
chr14	96526974	96527024	E081	1508
chr14	96527164	96527252	E081	1698
chr14	96532245	96532296	E081	6779
chr14	96532317	96532465	E081	6851
chr14	96532566	96532760	E081	7100
chr14	96549837	96549940	E081	24371
chr14	96549948	96550364	E081	24482
chr14	96550459	96550544	E081	24993
chr14	96550720	96550811	E081	25254
chr14	96551166	96551348	E081	25700
chr14	96556387	96556474	E081	30921
chr14	96556762	96557548	E081	31296
chr14	96557576	96557666	E081	32110
chr14	96557751	96557824	E081	32285
chr14	96492855	96492909	E082	-32557
chr14	96492916	96492974	E082	-32492
chr14	96493150	96493200	E082	-32266
chr14	96494761	96494841	E082	-30625
chr14	96495242	96495494	E082	-29972
chr14	96495594	96495837	E082	-29629
chr14	96496530	96496687	E082	-28779
chr14	96496708	96496793	E082	-28673
chr14	96496869	96496935	E082	-28531
chr14	96496978	96497028	E082	-28438
chr14	96507993	96508086	E082	-17380
chr14	96508099	96508152	E082	-17314
chr14	96508441	96508488	E082	-16978
chr14	96509554	96509657	E082	-15809
chr14	96509681	96509747	E082	-15719
chr14	96509796	96509856	E082	-15610
chr14	96518497	96518642	E082	-6824
chr14	96518831	96518883	E082	-6583
chr14	96519053	96519351	E082	-6115
chr14	96519392	96519470	E082	-5996
chr14	96519685	96519739	E082	-5727
chr14	96519808	96519852	E082	-5614
chr14	96523359	96523432	E082	-2034
chr14	96523498	96523618	E082	-1848
chr14	96526284	96526334	E082	818
chr14	96526441	96526584	E082	975
chr14	96532317	96532465	E082	6851
chr14	96532566	96532760	E082	7100
chr14	96532968	96533023	E082	7502
chr14	96549837	96549940	E082	24371
chr14	96549948	96550364	E082	24482
chr14	96556762	96557548	E082	31296
chr14	96557576	96557666	E082	32110
chr14	96557751	96557824	E082	32285
chr14	96557827	96557896	E082	32361
chr14	96557898	96557992	E082	32432

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	96504698	96506907	E067	-18559
chr14	96504698	96506907	E068	-18559
chr14	96504698	96506907	E069	-18559
chr14	96504698	96506907	E070	-18559
chr14	96504698	96506907	E071	-18559
chr14	96504698	96506907	E072	-18559
chr14	96504698	96506907	E073	-18559
chr14	96504698	96506907	E074	-18559
chr14	96504698	96506907	E082	-18559