rs10166845

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PLCL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0463 (13836/29844,GnomAD)
G=0490 (14278/29118,TOPMED)
G=0450 (2254/5008,1000G)
A==0493 (1901/3854,ALSPAC)
G=0496 (1841/3708,TWINSUK)

Position: chr2:198031347 (GRCh38.p7) (2q33.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 140 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.198031347A>G
GRCh37.p13 chr 2	NC_000002.11:g.198896071A>G

Gene: PLCL1, phospholipase C like 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PLCL1 transcript	NM_006226.3:c.	N/A	Intron Variant
PLCL1 transcript variant X1	XM_005246643.3:c.	N/A	Intron Variant
PLCL1 transcript variant X3	XM_011511351.2:c.	N/A	Intron Variant
PLCL1 transcript variant X2	XM_017004339.1:c.	N/A	Intron Variant
PLCL1 transcript variant X5	XM_017004340.1:c.	N/A	Intron Variant
PLCL1 transcript variant X4	XM_005246644.3:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.504	G=0.496
1000Genomes	American	Sub	694	A=0.580	G=0.420
1000Genomes	East Asian	Sub	1008	A=0.780	G=0.220
1000Genomes	Europe	Sub	1006	A=0.454	G=0.546
1000Genomes	Global	Study-wide	5008	A=0.550	G=0.450
1000Genomes	South Asian	Sub	978	A=0.450	G=0.550
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.493	G=0.507
The Genome Aggregation Database	African	Sub	8694	A=0.494	G=0.506
The Genome Aggregation Database	American	Sub	828	A=0.650	G=0.350
The Genome Aggregation Database	East Asian	Sub	1614	A=0.802	G=0.198
The Genome Aggregation Database	Europe	Sub	18408	A=0.528	G=0.471
The Genome Aggregation Database	Global	Study-wide	29844	A=0.536	G=0.463
The Genome Aggregation Database	Other	Sub	300	A=0.480	G=0.520
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.509	G=0.490
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.504	G=0.496

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs10166845	1.16E-05	alcohol consumption	23743675

eQTL of rs10166845 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 rs10166845 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 )
chr2	198849914	198850263	E067	-45808
chr2	198859584	198859710	E067	-36361
chr2	198860594	198860652	E067	-35419
chr2	198861601	198861700	E067	-34371
chr2	198861897	198861982	E067	-34089
chr2	198862039	198862206	E067	-33865
chr2	198862262	198862312	E067	-33759
chr2	198863014	198863054	E067	-33017
chr2	198895311	198895383	E067	-688
chr2	198905291	198905433	E067	9220
chr2	198918578	198918696	E067	22507
chr2	198945273	198945529	E067	49202
chr2	198860594	198860652	E068	-35419
chr2	198861601	198861700	E068	-34371
chr2	198861897	198861982	E068	-34089
chr2	198869628	198869727	E068	-26344
chr2	198869765	198869846	E068	-26225
chr2	198894292	198894356	E068	-1715
chr2	198905291	198905433	E068	9220
chr2	198905500	198905702	E068	9429
chr2	198919509	198919737	E068	23438
chr2	198919820	198920207	E068	23749
chr2	198920560	198920776	E068	24489
chr2	198922587	198922655	E068	26516
chr2	198930117	198930438	E068	34046
chr2	198945273	198945529	E068	49202
chr2	198849914	198850263	E069	-45808
chr2	198860594	198860652	E069	-35419
chr2	198861601	198861700	E069	-34371
chr2	198869765	198869846	E069	-26225
chr2	198870058	198870605	E069	-25466
chr2	198881929	198882001	E069	-14070
chr2	198895156	198895261	E069	-810
chr2	198895311	198895383	E069	-688
chr2	198895428	198895521	E069	-550
chr2	198902752	198902963	E069	6681
chr2	198905291	198905433	E069	9220
chr2	198905500	198905702	E069	9429
chr2	198906774	198907233	E069	10703
chr2	198917564	198917745	E069	21493
chr2	198917974	198918065	E069	21903
chr2	198918578	198918696	E069	22507
chr2	198930117	198930438	E069	34046
chr2	198945273	198945529	E069	49202
chr2	198894809	198894947	E070	-1124
chr2	198896952	198897006	E070	881
chr2	198898314	198898364	E070	2243
chr2	198920560	198920776	E070	24489
chr2	198849914	198850263	E071	-45808
chr2	198858638	198858821	E071	-37250
chr2	198860594	198860652	E071	-35419
chr2	198861601	198861700	E071	-34371
chr2	198861897	198861982	E071	-34089
chr2	198862039	198862206	E071	-33865
chr2	198862262	198862312	E071	-33759
chr2	198869003	198869098	E071	-26973
chr2	198869628	198869727	E071	-26344
chr2	198869765	198869846	E071	-26225
chr2	198894292	198894356	E071	-1715
chr2	198894442	198894522	E071	-1549
chr2	198894809	198894947	E071	-1124
chr2	198902752	198902963	E071	6681
chr2	198903313	198903359	E071	7242
chr2	198905291	198905433	E071	9220
chr2	198905500	198905702	E071	9429
chr2	198906774	198907233	E071	10703
chr2	198917564	198917745	E071	21493
chr2	198917974	198918065	E071	21903
chr2	198918578	198918696	E071	22507
chr2	198919150	198919308	E071	23079
chr2	198919509	198919737	E071	23438
chr2	198919820	198920207	E071	23749
chr2	198920560	198920776	E071	24489
chr2	198925168	198925266	E071	29097
chr2	198930117	198930438	E071	34046
chr2	198931481	198931548	E071	35410
chr2	198945273	198945529	E071	49202
chr2	198849914	198850263	E072	-45808
chr2	198860594	198860652	E072	-35419
chr2	198861601	198861700	E072	-34371
chr2	198861897	198861982	E072	-34089
chr2	198862039	198862206	E072	-33865
chr2	198862262	198862312	E072	-33759
chr2	198870058	198870605	E072	-25466
chr2	198881929	198882001	E072	-14070
chr2	198895428	198895521	E072	-550
chr2	198902752	198902963	E072	6681
chr2	198905291	198905433	E072	9220
chr2	198905500	198905702	E072	9429
chr2	198914419	198914505	E072	18348
chr2	198917974	198918065	E072	21903
chr2	198918578	198918696	E072	22507
chr2	198919150	198919308	E072	23079
chr2	198919509	198919737	E072	23438
chr2	198919820	198920207	E072	23749
chr2	198920560	198920776	E072	24489
chr2	198922587	198922655	E072	26516
chr2	198925168	198925266	E072	29097
chr2	198945273	198945529	E072	49202
chr2	198860594	198860652	E073	-35419
chr2	198861601	198861700	E073	-34371
chr2	198869628	198869727	E073	-26344
chr2	198869765	198869846	E073	-26225
chr2	198870058	198870605	E073	-25466
chr2	198918578	198918696	E073	22507
chr2	198919150	198919308	E073	23079
chr2	198919509	198919737	E073	23438
chr2	198849914	198850263	E074	-45808
chr2	198860594	198860652	E074	-35419
chr2	198861601	198861700	E074	-34371
chr2	198861897	198861982	E074	-34089
chr2	198862039	198862206	E074	-33865
chr2	198862262	198862312	E074	-33759
chr2	198863014	198863054	E074	-33017
chr2	198868844	198868923	E074	-27148
chr2	198869003	198869098	E074	-26973
chr2	198869628	198869727	E074	-26344
chr2	198869765	198869846	E074	-26225
chr2	198881929	198882001	E074	-14070
chr2	198894292	198894356	E074	-1715
chr2	198894442	198894522	E074	-1549
chr2	198894809	198894947	E074	-1124
chr2	198895156	198895261	E074	-810
chr2	198895311	198895383	E074	-688
chr2	198902752	198902963	E074	6681
chr2	198905291	198905433	E074	9220
chr2	198905500	198905702	E074	9429
chr2	198906774	198907233	E074	10703
chr2	198917564	198917745	E074	21493
chr2	198917974	198918065	E074	21903
chr2	198918578	198918696	E074	22507
chr2	198919150	198919308	E074	23079
chr2	198919509	198919737	E074	23438
chr2	198919820	198920207	E074	23749
chr2	198920560	198920776	E074	24489
chr2	198930117	198930438	E074	34046
chr2	198931481	198931548	E074	35410
chr2	198945273	198945529	E074	49202
chr2	198945273	198945529	E081	49202
chr2	198849914	198850263	E082	-45808