SNP Detail Info-rs1368839

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.94417126T>G
GRCh37.p13 chr 15	NC_000015.9:g.94960355T>G

Gene: MCTP2, multiple C2 domains, transmembrane 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MCTP2 transcript variant 2	NM_001159643.1:c.	N/A	Intron Variant
MCTP2 transcript variant 1	NM_018349.3:c.	N/A	Intron Variant
MCTP2 transcript variant 3	NM_001159644.1:c.	N/A	Genic Downstream Transcript Variant
MCTP2 transcript variant X4	XM_005254955.3:c.	N/A	Intron Variant
MCTP2 transcript variant X15	XM_005254960.2:c.	N/A	Intron Variant
MCTP2 transcript variant X5	XM_006720603.2:c.	N/A	Intron Variant
MCTP2 transcript variant X3	XM_011521770.1:c.	N/A	Intron Variant
MCTP2 transcript variant X6	XM_011521771.2:c.	N/A	Intron Variant
MCTP2 transcript variant X7	XM_011521772.2:c.	N/A	Intron Variant
MCTP2 transcript variant X14	XM_011521775.2:c.	N/A	Intron Variant
MCTP2 transcript variant X1	XM_017022403.1:c.	N/A	Intron Variant
MCTP2 transcript variant X9	XM_017022404.1:c.	N/A	Intron Variant
MCTP2 transcript variant X10	XM_017022405.1:c.	N/A	Intron Variant
MCTP2 transcript variant X8	XM_011521773.2:c.	N/A	Genic Downstream Transcript Variant
MCTP2 transcript variant X11	XM_011521774.2:c.	N/A	Genic Downstream Transcript Variant
MCTP2 transcript variant X2	XR_931865.2:n.	N/A	Intron Variant
MCTP2 transcript variant X12	XR_001751349.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.721	G=0.279
1000Genomes	American	Sub	694	T=0.850	G=0.150
1000Genomes	East Asian	Sub	1008	T=0.699	G=0.301
1000Genomes	Europe	Sub	1006	T=0.836	G=0.164
1000Genomes	Global	Study-wide	5008	T=0.774	G=0.226
1000Genomes	South Asian	Sub	978	T=0.800	G=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.862	G=0.138
The Genome Aggregation Database	African	Sub	8708	T=0.749	G=0.251
The Genome Aggregation Database	American	Sub	838	T=0.870	G=0.130
The Genome Aggregation Database	East Asian	Sub	1606	T=0.738	G=0.262
The Genome Aggregation Database	Europe	Sub	18464	T=0.848	G=0.151
The Genome Aggregation Database	Global	Study-wide	29918	T=0.813	G=0.186
The Genome Aggregation Database	Other	Sub	302	T=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.799	G=0.200
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.861	G=0.139

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
rs1368839	0.000498	alcohol dependence	20201924

eQTL of rs1368839 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 rs1368839 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr15	94910543	94910603	E070	-49752
chr15	94910737	94910827	E070	-49528
chr15	94910849	94911548	E070	-48807
chr15	94911954	94912004	E070	-48351
chr15	94912086	94912255	E070	-48100
chr15	94912621	94912676	E070	-47679
chr15	94912691	94912751	E070	-47604
chr15	94912854	94912935	E070	-47420
chr15	94913241	94913384	E070	-46971
chr15	94913457	94914101	E070	-46254
chr15	94914251	94914441	E070	-45914
chr15	94914724	94914774	E070	-45581
chr15	94914910	94914951	E070	-45404
chr15	94953505	94953637	E070	-6718
chr15	94954167	94954259	E070	-6096
chr15	94954663	94954763	E070	-5592
chr15	94954880	94954930	E070	-5425
chr15	94955232	94955370	E070	-4985
chr15	94955544	94955634	E070	-4721
chr15	94955672	94955764	E070	-4591
chr15	94955910	94955991	E070	-4364
chr15	94959282	94959977	E070	-378
chr15	94960078	94960378	E070	0
chr15	94961245	94961483	E070	890
chr15	94986522	94986758	E070	26167
chr15	94986819	94986869	E070	26464
chr15	94986878	94986968	E070	26523
chr15	94910543	94910603	E081	-49752
chr15	94910737	94910827	E081	-49528
chr15	94913457	94914101	E081	-46254
chr15	94959126	94959211	E081	-1144
chr15	94959282	94959977	E081	-378
chr15	94960078	94960378	E081	0
chr15	94961245	94961483	E081	890
chr15	94961580	94961640	E081	1225
chr15	94993559	94993689	E081	33204
chr15	94993981	94994739	E081	33626
chr15	94910543	94910603	E082	-49752
chr15	94910737	94910827	E082	-49528
chr15	94910849	94911548	E082	-48807
chr15	94958157	94958606	E082	-1749
chr15	94959126	94959211	E082	-1144
chr15	94959282	94959977	E082	-378
chr15	94960078	94960378	E082	0
chr15	94985755	94986169	E082	25400
chr15	94986426	94986476	E082	26071
chr15	94986522	94986758	E082	26167
chr15	94986819	94986869	E082	26464
chr15	94986878	94986968	E082	26523

rs1368839

Genomic Coordinates

Gene: MCTP2, multiple C2 domains, transmembrane 2(plus strand)

Population Frequency

P-Value

eQTL of rs1368839 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1368839 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)