rs10497811

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

PLCL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0429 (12859/29922,GnomAD)
C=0442 (12890/29118,TOPMED)
C=0419 (2100/5008,1000G)
A==0488 (1879/3854,ALSPAC)
A==0497 (1843/3708,TWINSUK)

Position: chr2:198038185 (GRCh38.p7) (2q33.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 134 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.198038185A>C
GRCh37.p13 chr 2	NC_000002.11:g.198902909A>C

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=0.644	C=0.356
1000Genomes	American	Sub	694	A=0.580	C=0.420
1000Genomes	East Asian	Sub	1008	A=0.779	C=0.221
1000Genomes	Europe	Sub	1006	A=0.449	C=0.551
1000Genomes	Global	Study-wide	5008	A=0.581	C=0.419
1000Genomes	South Asian	Sub	978	A=0.430	C=0.570
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.488	C=0.512
The Genome Aggregation Database	African	Sub	8708	A=0.624	C=0.376
The Genome Aggregation Database	American	Sub	836	A=0.660	C=0.340
The Genome Aggregation Database	East Asian	Sub	1616	A=0.803	C=0.197
The Genome Aggregation Database	Europe	Sub	18460	A=0.522	C=0.477
The Genome Aggregation Database	Global	Study-wide	29922	A=0.570	C=0.429
The Genome Aggregation Database	Other	Sub	302	A=0.480	C=0.520
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.557	C=0.442
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.497	C=0.503

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
rs10497811	5.94E-06	alcohol consumption	23743675

eQTL of rs10497811 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 rs10497811 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	198859584	198859710	E067	-43199
chr2	198860594	198860652	E067	-42257
chr2	198861601	198861700	E067	-41209
chr2	198861897	198861982	E067	-40927
chr2	198862039	198862206	E067	-40703
chr2	198862262	198862312	E067	-40597
chr2	198863014	198863054	E067	-39855
chr2	198895311	198895383	E067	-7526
chr2	198905291	198905433	E067	2382
chr2	198918578	198918696	E067	15669
chr2	198945273	198945529	E067	42364
chr2	198860594	198860652	E068	-42257
chr2	198861601	198861700	E068	-41209
chr2	198861897	198861982	E068	-40927
chr2	198869628	198869727	E068	-33182
chr2	198869765	198869846	E068	-33063
chr2	198894292	198894356	E068	-8553
chr2	198905291	198905433	E068	2382
chr2	198905500	198905702	E068	2591
chr2	198919509	198919737	E068	16600
chr2	198919820	198920207	E068	16911
chr2	198920560	198920776	E068	17651
chr2	198922587	198922655	E068	19678
chr2	198930117	198930438	E068	27208
chr2	198945273	198945529	E068	42364
chr2	198860594	198860652	E069	-42257
chr2	198861601	198861700	E069	-41209
chr2	198869765	198869846	E069	-33063
chr2	198870058	198870605	E069	-32304
chr2	198881929	198882001	E069	-20908
chr2	198895156	198895261	E069	-7648
chr2	198895311	198895383	E069	-7526
chr2	198895428	198895521	E069	-7388
chr2	198902752	198902963	E069	0
chr2	198905291	198905433	E069	2382
chr2	198905500	198905702	E069	2591
chr2	198906774	198907233	E069	3865
chr2	198917564	198917745	E069	14655
chr2	198917974	198918065	E069	15065
chr2	198918578	198918696	E069	15669
chr2	198930117	198930438	E069	27208
chr2	198945273	198945529	E069	42364
chr2	198894809	198894947	E070	-7962
chr2	198896952	198897006	E070	-5903
chr2	198898314	198898364	E070	-4545
chr2	198920560	198920776	E070	17651
chr2	198858638	198858821	E071	-44088
chr2	198860594	198860652	E071	-42257
chr2	198861601	198861700	E071	-41209
chr2	198861897	198861982	E071	-40927
chr2	198862039	198862206	E071	-40703
chr2	198862262	198862312	E071	-40597
chr2	198869003	198869098	E071	-33811
chr2	198869628	198869727	E071	-33182
chr2	198869765	198869846	E071	-33063
chr2	198894292	198894356	E071	-8553
chr2	198894442	198894522	E071	-8387
chr2	198894809	198894947	E071	-7962
chr2	198902752	198902963	E071	0
chr2	198903313	198903359	E071	404
chr2	198905291	198905433	E071	2382
chr2	198905500	198905702	E071	2591
chr2	198906774	198907233	E071	3865
chr2	198917564	198917745	E071	14655
chr2	198917974	198918065	E071	15065
chr2	198918578	198918696	E071	15669
chr2	198919150	198919308	E071	16241
chr2	198919509	198919737	E071	16600
chr2	198919820	198920207	E071	16911
chr2	198920560	198920776	E071	17651
chr2	198925168	198925266	E071	22259
chr2	198930117	198930438	E071	27208
chr2	198931481	198931548	E071	28572
chr2	198945273	198945529	E071	42364
chr2	198860594	198860652	E072	-42257
chr2	198861601	198861700	E072	-41209
chr2	198861897	198861982	E072	-40927
chr2	198862039	198862206	E072	-40703
chr2	198862262	198862312	E072	-40597
chr2	198870058	198870605	E072	-32304
chr2	198881929	198882001	E072	-20908
chr2	198895428	198895521	E072	-7388
chr2	198902752	198902963	E072	0
chr2	198905291	198905433	E072	2382
chr2	198905500	198905702	E072	2591
chr2	198914419	198914505	E072	11510
chr2	198917974	198918065	E072	15065
chr2	198918578	198918696	E072	15669
chr2	198919150	198919308	E072	16241
chr2	198919509	198919737	E072	16600
chr2	198919820	198920207	E072	16911
chr2	198920560	198920776	E072	17651
chr2	198922587	198922655	E072	19678
chr2	198925168	198925266	E072	22259
chr2	198945273	198945529	E072	42364
chr2	198860594	198860652	E073	-42257
chr2	198861601	198861700	E073	-41209
chr2	198869628	198869727	E073	-33182
chr2	198869765	198869846	E073	-33063
chr2	198870058	198870605	E073	-32304
chr2	198918578	198918696	E073	15669
chr2	198919150	198919308	E073	16241
chr2	198919509	198919737	E073	16600
chr2	198860594	198860652	E074	-42257
chr2	198861601	198861700	E074	-41209
chr2	198861897	198861982	E074	-40927
chr2	198862039	198862206	E074	-40703
chr2	198862262	198862312	E074	-40597
chr2	198863014	198863054	E074	-39855
chr2	198868844	198868923	E074	-33986
chr2	198869003	198869098	E074	-33811
chr2	198869628	198869727	E074	-33182
chr2	198869765	198869846	E074	-33063
chr2	198881929	198882001	E074	-20908
chr2	198894292	198894356	E074	-8553
chr2	198894442	198894522	E074	-8387
chr2	198894809	198894947	E074	-7962
chr2	198895156	198895261	E074	-7648
chr2	198895311	198895383	E074	-7526
chr2	198902752	198902963	E074	0
chr2	198905291	198905433	E074	2382
chr2	198905500	198905702	E074	2591
chr2	198906774	198907233	E074	3865
chr2	198917564	198917745	E074	14655
chr2	198917974	198918065	E074	15065
chr2	198918578	198918696	E074	15669
chr2	198919150	198919308	E074	16241
chr2	198919509	198919737	E074	16600
chr2	198919820	198920207	E074	16911
chr2	198920560	198920776	E074	17651
chr2	198930117	198930438	E074	27208
chr2	198931481	198931548	E074	28572
chr2	198945273	198945529	E074	42364
chr2	198945273	198945529	E081	42364