SNP Detail Info-rs11109794

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.99283218G>A
GRCh37.p13 chr 12	NC_000012.11:g.99676996G>A
ANKS1B RefSeqGene	NG_029860.1:g.706437C>T

Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKS1B transcript variant 1	NM_152788.4:c.	N/A	Intron Variant
ANKS1B transcript variant 4	NM_001204065.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 5	NM_001204066.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 6	NM_001204067.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 7	NM_001204068.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 8	NM_001204069.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 9	NM_001204070.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 10	NM_001204079.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 11	NM_001204080.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 12	NM_001204081.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 3	NM_020140.3:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 2	NM_181670.3:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X9	XM_005269028.4:c.	N/A	Intron Variant
ANKS1B transcript variant X13	XM_005269029.4:c.	N/A	Intron Variant
ANKS1B transcript variant X2	XM_006719504.3:c.	N/A	Intron Variant
ANKS1B transcript variant X3	XM_006719505.3:c.	N/A	Intron Variant
ANKS1B transcript variant X4	XM_006719506.3:c.	N/A	Intron Variant
ANKS1B transcript variant X6	XM_006719507.3:c.	N/A	Intron Variant
ANKS1B transcript variant X10	XM_006719508.3:c.	N/A	Intron Variant
ANKS1B transcript variant X11	XM_006719509.3:c.	N/A	Intron Variant
ANKS1B transcript variant X16	XM_006719510.3:c.	N/A	Intron Variant
ANKS1B transcript variant X18	XM_006719512.3:c.	N/A	Intron Variant
ANKS1B transcript variant X19	XM_006719513.3:c.	N/A	Intron Variant
ANKS1B transcript variant X21	XM_006719514.3:c.	N/A	Intron Variant
ANKS1B transcript variant X14	XM_011538571.2:c.	N/A	Intron Variant
ANKS1B transcript variant X1	XM_017019651.1:c.	N/A	Intron Variant
ANKS1B transcript variant X5	XM_017019652.1:c.	N/A	Intron Variant
ANKS1B transcript variant X7	XM_017019653.1:c.	N/A	Intron Variant
ANKS1B transcript variant X8	XM_017019654.1:c.	N/A	Intron Variant
ANKS1B transcript variant X12	XM_017019655.1:c.	N/A	Intron Variant
ANKS1B transcript variant X15	XM_017019656.1:c.	N/A	Intron Variant
ANKS1B transcript variant X17	XM_017019657.1:c.	N/A	Intron Variant
ANKS1B transcript variant X20	XM_017019658.1:c.	N/A	Intron Variant
ANKS1B transcript variant X30	XM_005269032.3:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X23	XM_017019659.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X24	XM_017019660.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X25	XM_017019661.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X26	XM_017019662.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X27	XM_017019663.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X28	XM_017019664.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X29	XM_017019665.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X22	XR_001748815.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.899	A=0.101
1000Genomes	American	Sub	694	G=1.000	A=0.000
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.973	A=0.027
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.999	A=0.001
The Genome Aggregation Database	African	Sub	8712	G=0.916	A=0.084
The Genome Aggregation Database	American	Sub	838	G=0.990	A=0.010
The Genome Aggregation Database	East Asian	Sub	1612	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18478	G=0.999	A=0.000
The Genome Aggregation Database	Global	Study-wide	29942	G=0.975	A=0.024
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.958	A=0.041
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=1.000	A=0.000

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
rs11109794	0.000916	alcohol dependence	21314694

eQTL of rs11109794 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 rs11109794 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 )
chr12	99652810	99653070	E067	-23926
chr12	99653117	99653889	E067	-23107
chr12	99652810	99653070	E068	-23926
chr12	99653117	99653889	E068	-23107
chr12	99639680	99640166	E070	-36830
chr12	99652810	99653070	E070	-23926
chr12	99653117	99653889	E070	-23107
chr12	99693087	99693168	E070	16091
chr12	99693767	99693897	E070	16771
chr12	99693944	99694218	E070	16948
chr12	99725501	99725607	E070	48505
chr12	99726701	99726828	E070	49705
chr12	99726846	99726947	E070	49850
chr12	99652810	99653070	E071	-23926
chr12	99653117	99653889	E071	-23107
chr12	99652810	99653070	E072	-23926
chr12	99653117	99653889	E072	-23107
chr12	99652810	99653070	E073	-23926
chr12	99653117	99653889	E073	-23107
chr12	99726168	99726260	E073	49172
chr12	99726701	99726828	E073	49705
chr12	99652810	99653070	E074	-23926
chr12	99653117	99653889	E074	-23107
chr12	99653117	99653889	E081	-23107
chr12	99704294	99704422	E081	27298
chr12	99705092	99705180	E081	28096
chr12	99705311	99705419	E081	28315
chr12	99705642	99705750	E081	28646
chr12	99705851	99705954	E081	28855
chr12	99706016	99706066	E081	29020
chr12	99652810	99653070	E082	-23926
chr12	99653117	99653889	E082	-23107

rs11109794

Genomic Coordinates

Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B(minus strand)

Population Frequency

P-Value

eQTL of rs11109794 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs11109794 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)