rs10492333

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0071 (2146/29920,GnomAD)
C=0061 (1800/29118,TOPMED)
C=0041 (204/5008,1000G)
C=0106 (407/3854,ALSPAC)
C=0117 (432/3708,TWINSUK)

Position: chr12:114137672 (GRCh38.p7) (12q24.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 85 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.114137672T>C
GRCh37.p13 chr 12	NC_000012.11:g.114575477T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.998	C=0.002
1000Genomes	American	Sub	694	T=0.920	C=0.080
1000Genomes	East Asian	Sub	1008	T=1.000	C=0.000
1000Genomes	Europe	Sub	1006	T=0.877	C=0.123
1000Genomes	Global	Study-wide	5008	T=0.959	C=0.041
1000Genomes	South Asian	Sub	978	T=0.980	C=0.020
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.894	C=0.106
The Genome Aggregation Database	African	Sub	8718	T=0.982	C=0.018
The Genome Aggregation Database	American	Sub	838	T=0.940	C=0.060
The Genome Aggregation Database	East Asian	Sub	1606	T=1.000	C=0.000
The Genome Aggregation Database	Europe	Sub	18458	T=0.897	C=0.102
The Genome Aggregation Database	Global	Study-wide	29920	T=0.928	C=0.071
The Genome Aggregation Database	Other	Sub	300	T=0.850	C=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.938	C=0.061
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.883	C=0.117

PMID	Title	Author	Journal

P-Value

SNP ID	p-value	Traits	Study
rs10492333	2.88E-05	alcohol consumption	pha001397

eQTL of rs10492333 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 rs10492333 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 )
chr12	114603964	114604047	E067	28487
chr12	114604069	114604180	E067	28592
chr12	114605076	114605596	E067	29599
chr12	114605684	114606310	E067	30207
chr12	114603964	114604047	E068	28487
chr12	114604069	114604180	E068	28592
chr12	114604272	114604510	E068	28795
chr12	114604525	114604607	E068	29048
chr12	114605076	114605596	E068	29599
chr12	114605684	114606310	E068	30207
chr12	114606519	114606571	E068	31042
chr12	114606645	114606695	E068	31168
chr12	114606789	114606843	E068	31312
chr12	114623556	114623606	E068	48079
chr12	114623866	114624195	E068	48389
chr12	114624230	114624356	E068	48753
chr12	114624395	114624975	E068	48918
chr12	114625084	114625144	E068	49607
chr12	114625397	114625447	E068	49920
chr12	114603781	114603831	E069	28304
chr12	114603964	114604047	E069	28487
chr12	114604069	114604180	E069	28592
chr12	114604272	114604510	E069	28795
chr12	114604525	114604607	E069	29048
chr12	114605076	114605596	E069	29599
chr12	114605684	114606310	E069	30207
chr12	114606519	114606571	E069	31042
chr12	114622850	114623179	E069	47373
chr12	114623220	114623363	E069	47743
chr12	114623556	114623606	E069	48079
chr12	114623866	114624195	E069	48389
chr12	114624230	114624356	E069	48753
chr12	114624395	114624975	E069	48918
chr12	114625084	114625144	E069	49607
chr12	114625397	114625447	E069	49920
chr12	114604272	114604510	E071	28795
chr12	114604525	114604607	E071	29048
chr12	114605076	114605596	E071	29599
chr12	114605684	114606310	E071	30207
chr12	114606519	114606571	E071	31042
chr12	114606645	114606695	E071	31168
chr12	114606789	114606843	E071	31312
chr12	114621736	114621910	E071	46259
chr12	114621918	114622017	E071	46441
chr12	114622850	114623179	E071	47373
chr12	114623220	114623363	E071	47743
chr12	114623556	114623606	E071	48079
chr12	114623866	114624195	E071	48389
chr12	114624230	114624356	E071	48753
chr12	114624395	114624975	E071	48918
chr12	114625084	114625144	E071	49607
chr12	114625397	114625447	E071	49920
chr12	114603781	114603831	E072	28304
chr12	114603964	114604047	E072	28487
chr12	114604069	114604180	E072	28592
chr12	114604272	114604510	E072	28795
chr12	114604525	114604607	E072	29048
chr12	114605076	114605596	E072	29599
chr12	114605684	114606310	E072	30207
chr12	114606519	114606571	E072	31042
chr12	114622850	114623179	E072	47373
chr12	114623220	114623363	E072	47743
chr12	114623556	114623606	E072	48079
chr12	114623866	114624195	E072	48389
chr12	114624230	114624356	E072	48753
chr12	114624395	114624975	E072	48918
chr12	114605684	114606310	E073	30207
chr12	114623866	114624195	E073	48389
chr12	114624230	114624356	E073	48753
chr12	114603781	114603831	E074	28304
chr12	114603964	114604047	E074	28487
chr12	114604069	114604180	E074	28592
chr12	114604272	114604510	E074	28795
chr12	114604525	114604607	E074	29048
chr12	114605076	114605596	E074	29599
chr12	114605684	114606310	E074	30207
chr12	114606519	114606571	E074	31042
chr12	114606645	114606695	E074	31168
chr12	114606789	114606843	E074	31312
chr12	114623220	114623363	E074	47743
chr12	114623556	114623606	E074	48079
chr12	114623866	114624195	E074	48389
chr12	114624230	114624356	E074	48753
chr12	114624395	114624975	E074	48918
chr12	114625084	114625144	E074	49607