rs7960753

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

TMEM132C : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0443 (13296/29950,GnomAD)
C=0378 (11033/29118,TOPMED)
C=0438 (2194/5008,1000G)
A==0421 (1623/3854,ALSPAC)
A==0416 (1542/3708,TWINSUK)

Position: chr12:128673822 (GRCh38.p7) (12q24.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 63 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.128673822A>C
GRCh37.p13 chr 12	NC_000012.11:g.129158367A>C

Gene: TMEM132C, transmembrane protein 132C(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM132C transcript	NM_001136103.2:c.	N/A	Intron Variant
TMEM132C transcript variant X1	XM_011538998.2:c.	N/A	Intron Variant
TMEM132C transcript variant X2	XR_001748922.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.910	C=0.090
1000Genomes	American	Sub	694	A=0.440	C=0.560
1000Genomes	East Asian	Sub	1008	A=0.424	C=0.576
1000Genomes	Europe	Sub	1006	A=0.420	C=0.580
1000Genomes	Global	Study-wide	5008	A=0.562	C=0.438
1000Genomes	South Asian	Sub	978	A=0.470	C=0.530
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.421	C=0.579
The Genome Aggregation Database	African	Sub	8722	A=0.849	C=0.151
The Genome Aggregation Database	American	Sub	836	A=0.430	C=0.570
The Genome Aggregation Database	East Asian	Sub	1616	A=0.438	C=0.562
The Genome Aggregation Database	Europe	Sub	18476	A=0.434	C=0.565
The Genome Aggregation Database	Global	Study-wide	29950	A=0.556	C=0.443
The Genome Aggregation Database	Other	Sub	300	A=0.510	C=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.621	C=0.378
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.416	C=0.584

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs7960753	0.00013	alcohol dependence(early age of onset)	20201924
rs7960753	0.00044	alcohol dependence	20201924

eQTL of rs7960753 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 rs7960753 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	129136834	129136874	E067	-21493
chr12	129169006	129169234	E067	10639
chr12	129169242	129169363	E067	10875
chr12	129169485	129169535	E067	11118
chr12	129176616	129176696	E067	18249
chr12	129176885	129176945	E067	18518
chr12	129199266	129199327	E067	40899
chr12	129169006	129169234	E068	10639
chr12	129169242	129169363	E068	10875
chr12	129169485	129169535	E068	11118
chr12	129169673	129169723	E068	11306
chr12	129127406	129127495	E069	-30872
chr12	129127653	129127861	E069	-30506
chr12	129127892	129128114	E069	-30253
chr12	129136834	129136874	E069	-21493
chr12	129138683	129138754	E069	-19613
chr12	129138761	129138821	E069	-19546
chr12	129139125	129139282	E069	-19085
chr12	129145681	129146264	E069	-12103
chr12	129169006	129169234	E069	10639
chr12	129169242	129169363	E069	10875
chr12	129169485	129169535	E069	11118
chr12	129169673	129169723	E069	11306
chr12	129175392	129175442	E069	17025
chr12	129136834	129136874	E070	-21493
chr12	129138761	129138821	E070	-19546
chr12	129139125	129139282	E070	-19085
chr12	129144617	129144691	E070	-13676
chr12	129144929	129145350	E070	-13017
chr12	129145681	129146264	E070	-12103
chr12	129146497	129146687	E070	-11680
chr12	129146715	129146969	E070	-11398
chr12	129147088	129147275	E070	-11092
chr12	129127406	129127495	E071	-30872
chr12	129127892	129128114	E071	-30253
chr12	129134540	129134618	E071	-23749
chr12	129134677	129134726	E071	-23641
chr12	129137551	129137601	E071	-20766
chr12	129137796	129137874	E071	-20493
chr12	129137897	129137947	E071	-20420
chr12	129138155	129138249	E071	-20118
chr12	129169006	129169234	E071	10639
chr12	129169242	129169363	E071	10875
chr12	129169485	129169535	E071	11118
chr12	129169673	129169723	E071	11306
chr12	129200078	129200279	E071	41711
chr12	129136834	129136874	E072	-21493
chr12	129137551	129137601	E072	-20766
chr12	129138761	129138821	E072	-19546
chr12	129169006	129169234	E072	10639
chr12	129169242	129169363	E072	10875
chr12	129169006	129169234	E073	10639
chr12	129169242	129169363	E073	10875
chr12	129169485	129169535	E073	11118
chr12	129172475	129172620	E073	14108
chr12	129172745	129172795	E073	14378
chr12	129169006	129169234	E074	10639
chr12	129169242	129169363	E074	10875
chr12	129169485	129169535	E074	11118
chr12	129127892	129128114	E081	-30253
chr12	129145681	129146264	E081	-12103
chr12	129169006	129169234	E081	10639
chr12	129183532	129183605	E081	25165