rs8012052

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

TTC7B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0046 (1406/29996,GnomAD)
G=0061 (1799/29118,TOPMED)
G=0046 (230/5008,1000G)
G=0028 (107/3854,ALSPAC)
G=0028 (103/3708,TWINSUK)

Position: chr14:90781133 (GRCh38.p7) (14q32.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 408 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.90781133A>G
GRCh37.p13 chr 14	NC_000014.8:g.91247477A>G

Gene: TTC7B, tetratricopeptide repeat domain 7B(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TTC7B transcript variant 1	NM_001010854.1:c.	N/A	Intron Variant
TTC7B transcript variant 2	NM_001320421.1:c.	N/A	Intron Variant
TTC7B transcript variant X3	XM_011536497.1:c.	N/A	Intron Variant
TTC7B transcript variant X1	XM_017021044.1:c.	N/A	Intron Variant
TTC7B transcript variant X2	XM_017021045.1:c.	N/A	Intron Variant
TTC7B transcript variant X4	XM_017021046.1:c.	N/A	Intron Variant
TTC7B transcript variant X6	XM_017021047.1:c.	N/A	Intron Variant
TTC7B transcript variant X5	XM_005267367.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.901	G=0.099
1000Genomes	American	Sub	694	A=0.980	G=0.020
1000Genomes	East Asian	Sub	1008	A=0.998	G=0.002
1000Genomes	Europe	Sub	1006	A=0.971	G=0.029
1000Genomes	Global	Study-wide	5008	A=0.954	G=0.046
1000Genomes	South Asian	Sub	978	A=0.940	G=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.972	G=0.028
The Genome Aggregation Database	African	Sub	8728	A=0.892	G=0.108
The Genome Aggregation Database	American	Sub	838	A=0.980	G=0.020
The Genome Aggregation Database	East Asian	Sub	1620	A=0.989	G=0.011
The Genome Aggregation Database	Europe	Sub	18508	A=0.977	G=0.022
The Genome Aggregation Database	Global	Study-wide	29996	A=0.953	G=0.046
The Genome Aggregation Database	Other	Sub	302	A=0.990	G=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.938	G=0.061
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.972	G=0.028

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
rs8012052	0.000195	alcohol dependence	21314694

eQTL of rs8012052 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr14:91247477	TTC7B	ENSG00000165914.10	A>G	2.3956e-11	-35346	Cerebellum

meQTL of rs8012052 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	91199183	91199291	E067	-48186
chr14	91199336	91199404	E067	-48073
chr14	91199592	91199807	E067	-47670
chr14	91199883	91200079	E067	-47398
chr14	91200134	91200184	E067	-47293
chr14	91205479	91205551	E067	-41926
chr14	91205605	91205724	E067	-41753
chr14	91205815	91205982	E067	-41495
chr14	91206037	91206316	E067	-41161
chr14	91209095	91209442	E067	-38035
chr14	91209533	91210157	E067	-37320
chr14	91221084	91221128	E067	-26349
chr14	91221237	91221301	E067	-26176
chr14	91221478	91221537	E067	-25940
chr14	91226868	91227338	E067	-20139
chr14	91227379	91227436	E067	-20041
chr14	91239397	91239521	E067	-7956
chr14	91239675	91240158	E067	-7319
chr14	91240207	91240311	E067	-7166
chr14	91240377	91240455	E067	-7022
chr14	91240510	91240560	E067	-6917
chr14	91251800	91251874	E067	4323
chr14	91252457	91252507	E067	4980
chr14	91261627	91262509	E067	14150
chr14	91262569	91262753	E067	15092
chr14	91262812	91263152	E067	15335
chr14	91263864	91264166	E067	16387
chr14	91264407	91264601	E067	16930
chr14	91271414	91271675	E067	23937
chr14	91271703	91271753	E067	24226
chr14	91271823	91272148	E067	24346
chr14	91272188	91272319	E067	24711
chr14	91272374	91272468	E067	24897
chr14	91272505	91272993	E067	25028
chr14	91273313	91273681	E067	25836
chr14	91273690	91273783	E067	26213
chr14	91273896	91274077	E067	26419
chr14	91274099	91274277	E067	26622
chr14	91274290	91274503	E067	26813
chr14	91274687	91274827	E067	27210
chr14	91274883	91275002	E067	27406
chr14	91275098	91275197	E067	27621
chr14	91280209	91280266	E067	32732
chr14	91280617	91280725	E067	33140
chr14	91280758	91280875	E067	33281
chr14	91198008	91198058	E068	-49419
chr14	91198529	91198749	E068	-48728
chr14	91198928	91199037	E068	-48440
chr14	91199183	91199291	E068	-48186
chr14	91199336	91199404	E068	-48073
chr14	91199592	91199807	E068	-47670
chr14	91199883	91200079	E068	-47398
chr14	91200134	91200184	E068	-47293
chr14	91205605	91205724	E068	-41753
chr14	91205815	91205982	E068	-41495
chr14	91206037	91206316	E068	-41161
chr14	91206407	91206473	E068	-41004
chr14	91206530	91206781	E068	-40696
chr14	91208993	91209071	E068	-38406
chr14	91209095	91209442	E068	-38035
chr14	91209533	91210157	E068	-37320
chr14	91210300	91210417	E068	-37060
chr14	91210475	91210536	E068	-36941
chr14	91239675	91240158	E068	-7319
chr14	91240207	91240311	E068	-7166
chr14	91240377	91240455	E068	-7022
chr14	91240510	91240560	E068	-6917
chr14	91251896	91252307	E068	4419
chr14	91252457	91252507	E068	4980
chr14	91252652	91252737	E068	5175
chr14	91254426	91254737	E068	6949
chr14	91261627	91262509	E068	14150
chr14	91262569	91262753	E068	15092
chr14	91262812	91263152	E068	15335
chr14	91269722	91270470	E068	22245
chr14	91270595	91270649	E068	23118
chr14	91270705	91271389	E068	23228
chr14	91272188	91272319	E068	24711
chr14	91272374	91272468	E068	24897
chr14	91272505	91272993	E068	25028
chr14	91273313	91273681	E068	25836
chr14	91273690	91273783	E068	26213
chr14	91273896	91274077	E068	26419
chr14	91274099	91274277	E068	26622
chr14	91274290	91274503	E068	26813
chr14	91274687	91274827	E068	27210
chr14	91274883	91275002	E068	27406
chr14	91275098	91275197	E068	27621
chr14	91275219	91275543	E068	27742
chr14	91275627	91275780	E068	28150
chr14	91275918	91276135	E068	28441
chr14	91279363	91279413	E068	31886
chr14	91279429	91279481	E068	31952
chr14	91279737	91280158	E068	32260
chr14	91280209	91280266	E068	32732
chr14	91280617	91280725	E068	33140
chr14	91280758	91280875	E068	33281
chr14	91280983	91281162	E068	33506
chr14	91293899	91293939	E068	46422
chr14	91199183	91199291	E069	-48186
chr14	91205815	91205982	E069	-41495
chr14	91206037	91206316	E069	-41161
chr14	91206407	91206473	E069	-41004
chr14	91206530	91206781	E069	-40696
chr14	91208816	91208866	E069	-38611
chr14	91208900	91208981	E069	-38496
chr14	91208993	91209071	E069	-38406
chr14	91209095	91209442	E069	-38035
chr14	91209533	91210157	E069	-37320
chr14	91210300	91210417	E069	-37060
chr14	91219931	91220339	E069	-27138
chr14	91220415	91220793	E069	-26684
chr14	91220832	91220872	E069	-26605
chr14	91221084	91221128	E069	-26349
chr14	91221237	91221301	E069	-26176
chr14	91221478	91221537	E069	-25940
chr14	91222137	91222528	E069	-24949
chr14	91223806	91226749	E069	-20728
chr14	91226868	91227338	E069	-20139
chr14	91239397	91239521	E069	-7956
chr14	91239675	91240158	E069	-7319
chr14	91240207	91240311	E069	-7166
chr14	91240377	91240455	E069	-7022
chr14	91240510	91240560	E069	-6917
chr14	91251800	91251874	E069	4323
chr14	91251896	91252307	E069	4419
chr14	91252457	91252507	E069	4980
chr14	91252652	91252737	E069	5175
chr14	91261627	91262509	E069	14150
chr14	91262569	91262753	E069	15092
chr14	91262812	91263152	E069	15335
chr14	91263239	91263305	E069	15762
chr14	91263864	91264166	E069	16387
chr14	91270705	91271389	E069	23228
chr14	91271414	91271675	E069	23937
chr14	91271703	91271753	E069	24226
chr14	91271823	91272148	E069	24346
chr14	91272188	91272319	E069	24711
chr14	91272374	91272468	E069	24897
chr14	91272505	91272993	E069	25028
chr14	91273313	91273681	E069	25836
chr14	91273690	91273783	E069	26213
chr14	91273896	91274077	E069	26419
chr14	91274099	91274277	E069	26622
chr14	91274290	91274503	E069	26813
chr14	91274687	91274827	E069	27210
chr14	91274883	91275002	E069	27406
chr14	91275098	91275197	E069	27621
chr14	91275219	91275543	E069	27742
chr14	91277131	91277394	E069	29654
chr14	91277524	91277604	E069	30047
chr14	91278400	91278474	E069	30923
chr14	91278549	91278650	E069	31072
chr14	91278682	91278788	E069	31205
chr14	91278937	91278991	E069	31460
chr14	91279024	91279084	E069	31547
chr14	91279363	91279413	E069	31886
chr14	91279429	91279481	E069	31952
chr14	91279737	91280158	E069	32260
chr14	91280209	91280266	E069	32732
chr14	91280617	91280725	E069	33140
chr14	91280758	91280875	E069	33281
chr14	91280983	91281162	E069	33506
chr14	91283448	91283545	E069	35971
chr14	91199183	91199291	E070	-48186
chr14	91199336	91199404	E070	-48073
chr14	91199592	91199807	E070	-47670
chr14	91199883	91200079	E070	-47398
chr14	91200134	91200184	E070	-47293
chr14	91223806	91226749	E070	-20728
chr14	91262569	91262753	E070	15092
chr14	91280209	91280266	E070	32732
chr14	91280758	91280875	E070	33281
chr14	91293899	91293939	E070	46422
chr14	91198928	91199037	E071	-48440
chr14	91199183	91199291	E071	-48186
chr14	91199336	91199404	E071	-48073
chr14	91199592	91199807	E071	-47670
chr14	91200678	91200728	E071	-46749
chr14	91205479	91205551	E071	-41926
chr14	91205605	91205724	E071	-41753
chr14	91206037	91206316	E071	-41161
chr14	91206407	91206473	E071	-41004
chr14	91206530	91206781	E071	-40696
chr14	91208993	91209071	E071	-38406
chr14	91209095	91209442	E071	-38035
chr14	91209533	91210157	E071	-37320
chr14	91221084	91221128	E071	-26349
chr14	91221237	91221301	E071	-26176
chr14	91221478	91221537	E071	-25940
chr14	91222137	91222528	E071	-24949
chr14	91222537	91222612	E071	-24865
chr14	91239397	91239521	E071	-7956
chr14	91239675	91240158	E071	-7319
chr14	91240207	91240311	E071	-7166
chr14	91240377	91240455	E071	-7022
chr14	91240510	91240560	E071	-6917
chr14	91251539	91251622	E071	4062
chr14	91251682	91251787	E071	4205
chr14	91251800	91251874	E071	4323
chr14	91251896	91252307	E071	4419
chr14	91252457	91252507	E071	4980
chr14	91252652	91252737	E071	5175
chr14	91254191	91254251	E071	6714
chr14	91254426	91254737	E071	6949
chr14	91261627	91262509	E071	14150
chr14	91262569	91262753	E071	15092
chr14	91262812	91263152	E071	15335
chr14	91263239	91263305	E071	15762
chr14	91270595	91270649	E071	23118
chr14	91270705	91271389	E071	23228
chr14	91271823	91272148	E071	24346
chr14	91272188	91272319	E071	24711
chr14	91272374	91272468	E071	24897
chr14	91272505	91272993	E071	25028
chr14	91273313	91273681	E071	25836
chr14	91273690	91273783	E071	26213
chr14	91273896	91274077	E071	26419
chr14	91274099	91274277	E071	26622
chr14	91274290	91274503	E071	26813
chr14	91274687	91274827	E071	27210
chr14	91274883	91275002	E071	27406
chr14	91275098	91275197	E071	27621
chr14	91275219	91275543	E071	27742
chr14	91275627	91275780	E071	28150
chr14	91275918	91276135	E071	28441
chr14	91280617	91280725	E071	33140
chr14	91295942	91296154	E071	48465
chr14	91296188	91296358	E071	48711
chr14	91198008	91198058	E072	-49419
chr14	91198529	91198749	E072	-48728
chr14	91198928	91199037	E072	-48440
chr14	91199183	91199291	E072	-48186
chr14	91199336	91199404	E072	-48073
chr14	91199592	91199807	E072	-47670
chr14	91205605	91205724	E072	-41753
chr14	91205815	91205982	E072	-41495
chr14	91206037	91206316	E072	-41161
chr14	91208816	91208866	E072	-38611
chr14	91208900	91208981	E072	-38496
chr14	91208993	91209071	E072	-38406
chr14	91209095	91209442	E072	-38035
chr14	91209533	91210157	E072	-37320
chr14	91210300	91210417	E072	-37060
chr14	91221237	91221301	E072	-26176
chr14	91221478	91221537	E072	-25940
chr14	91222137	91222528	E072	-24949
chr14	91222537	91222612	E072	-24865
chr14	91223806	91226749	E072	-20728
chr14	91226868	91227338	E072	-20139
chr14	91239397	91239521	E072	-7956
chr14	91239675	91240158	E072	-7319
chr14	91240207	91240311	E072	-7166
chr14	91240377	91240455	E072	-7022
chr14	91240510	91240560	E072	-6917
chr14	91244854	91245472	E072	-2005
chr14	91245538	91245621	E072	-1856
chr14	91251896	91252307	E072	4419
chr14	91252457	91252507	E072	4980
chr14	91252652	91252737	E072	5175
chr14	91252946	91252996	E072	5469
chr14	91254426	91254737	E072	6949
chr14	91261627	91262509	E072	14150
chr14	91262569	91262753	E072	15092
chr14	91262812	91263152	E072	15335
chr14	91269722	91270470	E072	22245
chr14	91270595	91270649	E072	23118
chr14	91270705	91271389	E072	23228
chr14	91272374	91272468	E072	24897
chr14	91272505	91272993	E072	25028
chr14	91273313	91273681	E072	25836
chr14	91273690	91273783	E072	26213
chr14	91273896	91274077	E072	26419
chr14	91274099	91274277	E072	26622
chr14	91274290	91274503	E072	26813
chr14	91274687	91274827	E072	27210
chr14	91274883	91275002	E072	27406
chr14	91275098	91275197	E072	27621
chr14	91275219	91275543	E072	27742
chr14	91275627	91275780	E072	28150
chr14	91275918	91276135	E072	28441
chr14	91280617	91280725	E072	33140
chr14	91280758	91280875	E072	33281
chr14	91293899	91293939	E072	46422
chr14	91199336	91199404	E073	-48073
chr14	91199592	91199807	E073	-47670
chr14	91205815	91205982	E073	-41495
chr14	91206037	91206316	E073	-41161
chr14	91208816	91208866	E073	-38611
chr14	91208900	91208981	E073	-38496
chr14	91208993	91209071	E073	-38406
chr14	91209095	91209442	E073	-38035
chr14	91209533	91210157	E073	-37320
chr14	91210300	91210417	E073	-37060
chr14	91220415	91220793	E073	-26684
chr14	91223278	91223599	E073	-23878
chr14	91223806	91226749	E073	-20728
chr14	91226868	91227338	E073	-20139
chr14	91244854	91245472	E073	-2005
chr14	91252457	91252507	E073	4980
chr14	91261627	91262509	E073	14150
chr14	91262569	91262753	E073	15092
chr14	91262812	91263152	E073	15335
chr14	91264407	91264601	E073	16930
chr14	91269722	91270470	E073	22245
chr14	91270595	91270649	E073	23118
chr14	91270705	91271389	E073	23228
chr14	91271414	91271675	E073	23937
chr14	91271703	91271753	E073	24226
chr14	91271823	91272148	E073	24346
chr14	91272188	91272319	E073	24711
chr14	91272374	91272468	E073	24897
chr14	91272505	91272993	E073	25028
chr14	91273313	91273681	E073	25836
chr14	91273690	91273783	E073	26213
chr14	91273896	91274077	E073	26419
chr14	91274099	91274277	E073	26622
chr14	91274290	91274503	E073	26813
chr14	91274687	91274827	E073	27210
chr14	91274883	91275002	E073	27406
chr14	91275098	91275197	E073	27621
chr14	91275219	91275543	E073	27742
chr14	91275627	91275780	E073	28150
chr14	91278184	91278287	E073	30707
chr14	91278400	91278474	E073	30923
chr14	91278549	91278650	E073	31072
chr14	91278682	91278788	E073	31205
chr14	91278937	91278991	E073	31460
chr14	91279024	91279084	E073	31547
chr14	91280758	91280875	E073	33281
chr14	91280983	91281162	E073	33506
chr14	91283448	91283545	E073	35971
chr14	91293899	91293939	E073	46422
chr14	91197606	91197681	E074	-49796
chr14	91198008	91198058	E074	-49419
chr14	91198529	91198749	E074	-48728
chr14	91198928	91199037	E074	-48440
chr14	91199183	91199291	E074	-48186
chr14	91199336	91199404	E074	-48073
chr14	91199592	91199807	E074	-47670
chr14	91199883	91200079	E074	-47398
chr14	91200134	91200184	E074	-47293
chr14	91205479	91205551	E074	-41926
chr14	91205605	91205724	E074	-41753
chr14	91205815	91205982	E074	-41495
chr14	91206037	91206316	E074	-41161
chr14	91208816	91208866	E074	-38611
chr14	91208900	91208981	E074	-38496
chr14	91208993	91209071	E074	-38406
chr14	91209095	91209442	E074	-38035
chr14	91209533	91210157	E074	-37320
chr14	91210300	91210417	E074	-37060
chr14	91221084	91221128	E074	-26349
chr14	91221237	91221301	E074	-26176
chr14	91221478	91221537	E074	-25940
chr14	91222137	91222528	E074	-24949
chr14	91222537	91222612	E074	-24865
chr14	91223278	91223599	E074	-23878
chr14	91239675	91240158	E074	-7319
chr14	91240207	91240311	E074	-7166
chr14	91240377	91240455	E074	-7022
chr14	91240510	91240560	E074	-6917
chr14	91251800	91251874	E074	4323
chr14	91251896	91252307	E074	4419
chr14	91252457	91252507	E074	4980
chr14	91252652	91252737	E074	5175
chr14	91261627	91262509	E074	14150
chr14	91262569	91262753	E074	15092
chr14	91262812	91263152	E074	15335
chr14	91270595	91270649	E074	23118
chr14	91270705	91271389	E074	23228
chr14	91272505	91272993	E074	25028
chr14	91273313	91273681	E074	25836
chr14	91273690	91273783	E074	26213
chr14	91273896	91274077	E074	26419
chr14	91274099	91274277	E074	26622
chr14	91274290	91274503	E074	26813
chr14	91274687	91274827	E074	27210
chr14	91274883	91275002	E074	27406
chr14	91275098	91275197	E074	27621
chr14	91275219	91275543	E074	27742
chr14	91275627	91275780	E074	28150
chr14	91275918	91276135	E074	28441
chr14	91280617	91280725	E074	33140
chr14	91280758	91280875	E074	33281
chr14	91280983	91281162	E074	33506
chr14	91293899	91293939	E074	46422
chr14	91199883	91200079	E081	-47398
chr14	91200134	91200184	E081	-47293
chr14	91223806	91226749	E081	-20728
chr14	91226868	91227338	E081	-20139
chr14	91228050	91228176	E081	-19301
chr14	91228230	91228312	E081	-19165
chr14	91228382	91228432	E081	-19045
chr14	91279429	91279481	E081	31952
chr14	91280209	91280266	E081	32732
chr14	91280617	91280725	E081	33140
chr14	91280758	91280875	E081	33281
chr14	91280983	91281162	E081	33506
chr14	91283448	91283545	E081	35971
chr14	91199883	91200079	E082	-47398
chr14	91200134	91200184	E082	-47293
chr14	91219931	91220339	E082	-27138
chr14	91220415	91220793	E082	-26684
chr14	91223806	91226749	E082	-20728
chr14	91269722	91270470	E082	22245
chr14	91273896	91274077	E082	26419
chr14	91274290	91274503	E082	26813

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	91223611	91223688	E067	-23789
chr14	91223611	91223688	E068	-23789
chr14	91282451	91283437	E068	34974
chr14	91223611	91223688	E069	-23789
chr14	91282451	91283437	E070	34974
chr14	91223611	91223688	E071	-23789
chr14	91223611	91223688	E072	-23789
chr14	91223611	91223688	E073	-23789
chr14	91223611	91223688	E074	-23789
chr14	91282451	91283437	E082	34974