rs4943885

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DLG2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0260 (7777/29862,GnomAD)
A==0280 (8178/29118,TOPMED)
A==0287 (1437/5008,1000G)
A==0132 (509/3854,ALSPAC)
A==0128 (476/3708,TWINSUK)

Position: chr11:84055578 (GRCh38.p7) (11q14.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 234 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.84055578A>G
GRCh37.p13 chr 11	NC_000011.9:g.83766621A>G
DLG2 RefSeqGene	NG_021375.1:g.1576694T>C

Gene: DLG2, discs large homolog 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DLG2 transcript variant 1	NM_001142699.1:c.	N/A	Intron Variant
DLG2 transcript variant 3	NM_001142700.1:c.	N/A	Intron Variant
DLG2 transcript variant 5	NM_001206769.1:c.	N/A	Intron Variant
DLG2 transcript variant 6	NM_001300983.1:c.	N/A	Intron Variant
DLG2 transcript variant 2	NM_001364.3:c.	N/A	Intron Variant
DLG2 transcript variant 4	NM_001142702.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X28	XM_005273810.4:c.	N/A	Intron Variant
DLG2 transcript variant X32	XM_005273811.4:c.	N/A	Intron Variant
DLG2 transcript variant X4	XM_011544778.2:c.	N/A	Intron Variant
DLG2 transcript variant X6	XM_011544780.2:c.	N/A	Intron Variant
DLG2 transcript variant X15	XM_011544782.2:c.	N/A	Intron Variant
DLG2 transcript variant X36	XM_011544788.2:c.	N/A	Intron Variant
DLG2 transcript variant X1	XM_017017254.1:c.	N/A	Intron Variant
DLG2 transcript variant X2	XM_017017255.1:c.	N/A	Intron Variant
DLG2 transcript variant X3	XM_017017256.1:c.	N/A	Intron Variant
DLG2 transcript variant X5	XM_017017257.1:c.	N/A	Intron Variant
DLG2 transcript variant X7	XM_017017258.1:c.	N/A	Intron Variant
DLG2 transcript variant X8	XM_017017259.1:c.	N/A	Intron Variant
DLG2 transcript variant X9	XM_017017260.1:c.	N/A	Intron Variant
DLG2 transcript variant X10	XM_017017261.1:c.	N/A	Intron Variant
DLG2 transcript variant X11	XM_017017262.1:c.	N/A	Intron Variant
DLG2 transcript variant X12	XM_017017263.1:c.	N/A	Intron Variant
DLG2 transcript variant X13	XM_017017264.1:c.	N/A	Intron Variant
DLG2 transcript variant X14	XM_017017265.1:c.	N/A	Intron Variant
DLG2 transcript variant X16	XM_017017266.1:c.	N/A	Intron Variant
DLG2 transcript variant X17	XM_017017267.1:c.	N/A	Intron Variant
DLG2 transcript variant X18	XM_017017268.1:c.	N/A	Intron Variant
DLG2 transcript variant X19	XM_017017269.1:c.	N/A	Intron Variant
DLG2 transcript variant X20	XM_017017270.1:c.	N/A	Intron Variant
DLG2 transcript variant X21	XM_017017271.1:c.	N/A	Intron Variant
DLG2 transcript variant X22	XM_017017272.1:c.	N/A	Intron Variant
DLG2 transcript variant X23	XM_017017273.1:c.	N/A	Intron Variant
DLG2 transcript variant X23	XM_017017274.1:c.	N/A	Intron Variant
DLG2 transcript variant X24	XM_017017275.1:c.	N/A	Intron Variant
DLG2 transcript variant X25	XM_017017276.1:c.	N/A	Intron Variant
DLG2 transcript variant X26	XM_017017277.1:c.	N/A	Intron Variant
DLG2 transcript variant X27	XM_017017278.1:c.	N/A	Intron Variant
DLG2 transcript variant X29	XM_017017279.1:c.	N/A	Intron Variant
DLG2 transcript variant X31	XM_017017280.1:c.	N/A	Intron Variant
DLG2 transcript variant X32	XM_017017281.1:c.	N/A	Intron Variant
DLG2 transcript variant X34	XM_017017282.1:c.	N/A	Intron Variant
DLG2 transcript variant X33	XM_017017283.1:c.	N/A	Intron Variant
DLG2 transcript variant X34	XM_017017284.1:c.	N/A	Intron Variant
DLG2 transcript variant X35	XM_017017285.1:c.	N/A	Intron Variant
DLG2 transcript variant X39	XM_017017286.1:c.	N/A	Intron Variant
DLG2 transcript variant X38	XM_017017287.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X39	XM_017017288.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X40	XM_017017289.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X41	XM_017017290.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X42	XM_017017291.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X43	XM_017017292.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.500	G=0.500
1000Genomes	American	Sub	694	A=0.260	G=0.740
1000Genomes	East Asian	Sub	1008	A=0.230	G=0.770
1000Genomes	Europe	Sub	1006	A=0.170	G=0.830
1000Genomes	Global	Study-wide	5008	A=0.287	G=0.713
1000Genomes	South Asian	Sub	978	A=0.190	G=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.132	G=0.868
The Genome Aggregation Database	African	Sub	8690	A=0.434	G=0.566
The Genome Aggregation Database	American	Sub	832	A=0.230	G=0.770
The Genome Aggregation Database	East Asian	Sub	1580	A=0.250	G=0.750
The Genome Aggregation Database	Europe	Sub	18460	A=0.182	G=0.817
The Genome Aggregation Database	Global	Study-wide	29862	A=0.260	G=0.739
The Genome Aggregation Database	Other	Sub	300	A=0.140	G=0.860
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.280	G=0.719
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.128	G=0.872

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
rs4943885	0.000969	alcohol dependence	21314694

eQTL of rs4943885 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 rs4943885 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 )
chr11	83723259	83723517	E067	-43104
chr11	83730512	83730749	E067	-35872
chr11	83730750	83730861	E067	-35760
chr11	83730877	83731201	E067	-35420
chr11	83731535	83732029	E067	-34592
chr11	83732338	83732559	E067	-34062
chr11	83732573	83732682	E067	-33939
chr11	83733136	83733655	E067	-32966
chr11	83736391	83736431	E067	-30190
chr11	83736874	83736969	E067	-29652
chr11	83737308	83737358	E067	-29263
chr11	83771943	83772061	E067	5322
chr11	83772279	83772329	E067	5658
chr11	83772572	83772622	E067	5951
chr11	83772758	83773463	E067	6137
chr11	83787473	83787513	E067	20852
chr11	83799928	83800083	E067	33307
chr11	83800331	83801111	E067	33710
chr11	83802344	83802474	E067	35723
chr11	83802476	83802605	E067	35855
chr11	83802882	83802962	E067	36261
chr11	83802996	83803046	E067	36375
chr11	83803182	83803261	E067	36561
chr11	83812163	83812242	E067	45542
chr11	83812246	83812355	E067	45625
chr11	83812396	83812564	E067	45775
chr11	83813569	83813653	E067	46948
chr11	83813777	83813863	E067	47156
chr11	83813923	83814028	E067	47302
chr11	83814184	83814464	E067	47563
chr11	83816491	83816555	E067	49870
chr11	83721018	83721068	E068	-45553
chr11	83721210	83721260	E068	-45361
chr11	83722549	83722593	E068	-44028
chr11	83723259	83723517	E068	-43104
chr11	83723634	83723712	E068	-42909
chr11	83730750	83730861	E068	-35760
chr11	83730877	83731201	E068	-35420
chr11	83732338	83732559	E068	-34062
chr11	83732573	83732682	E068	-33939
chr11	83733136	83733655	E068	-32966
chr11	83733803	83734052	E068	-32569
chr11	83737308	83737358	E068	-29263
chr11	83780444	83780494	E068	13823
chr11	83780543	83780597	E068	13922
chr11	83780713	83780836	E068	14092
chr11	83799928	83800083	E068	33307
chr11	83800331	83801111	E068	33710
chr11	83802344	83802474	E068	35723
chr11	83812163	83812242	E068	45542
chr11	83812246	83812355	E068	45625
chr11	83812396	83812564	E068	45775
chr11	83813569	83813653	E068	46948
chr11	83813777	83813863	E068	47156
chr11	83813923	83814028	E068	47302
chr11	83814184	83814464	E068	47563
chr11	83816491	83816555	E068	49870
chr11	83723259	83723517	E069	-43104
chr11	83723634	83723712	E069	-42909
chr11	83730512	83730749	E069	-35872
chr11	83730750	83730861	E069	-35760
chr11	83730877	83731201	E069	-35420
chr11	83731535	83732029	E069	-34592
chr11	83732338	83732559	E069	-34062
chr11	83732573	83732682	E069	-33939
chr11	83733136	83733655	E069	-32966
chr11	83733803	83734052	E069	-32569
chr11	83737308	83737358	E069	-29263
chr11	83771943	83772061	E069	5322
chr11	83772279	83772329	E069	5658
chr11	83780444	83780494	E069	13823
chr11	83780543	83780597	E069	13922
chr11	83780713	83780836	E069	14092
chr11	83799928	83800083	E069	33307
chr11	83800331	83801111	E069	33710
chr11	83802344	83802474	E069	35723
chr11	83802476	83802605	E069	35855
chr11	83802882	83802962	E069	36261
chr11	83802996	83803046	E069	36375
chr11	83803182	83803261	E069	36561
chr11	83807740	83807808	E069	41119
chr11	83808113	83808316	E069	41492
chr11	83808353	83808567	E069	41732
chr11	83812163	83812242	E069	45542
chr11	83812246	83812355	E069	45625
chr11	83812396	83812564	E069	45775
chr11	83813569	83813653	E069	46948
chr11	83813777	83813863	E069	47156
chr11	83813923	83814028	E069	47302
chr11	83814184	83814464	E069	47563
chr11	83733136	83733655	E070	-32966
chr11	83799928	83800083	E070	33307
chr11	83800331	83801111	E070	33710
chr11	83813569	83813653	E070	46948
chr11	83813777	83813863	E070	47156
chr11	83813923	83814028	E070	47302
chr11	83723259	83723517	E071	-43104
chr11	83723634	83723712	E071	-42909
chr11	83730082	83730132	E071	-36489
chr11	83730512	83730749	E071	-35872
chr11	83730750	83730861	E071	-35760
chr11	83730877	83731201	E071	-35420
chr11	83731535	83732029	E071	-34592
chr11	83732338	83732559	E071	-34062
chr11	83732573	83732682	E071	-33939
chr11	83733136	83733655	E071	-32966
chr11	83733803	83734052	E071	-32569
chr11	83736391	83736431	E071	-30190
chr11	83736874	83736969	E071	-29652
chr11	83780444	83780494	E071	13823
chr11	83780543	83780597	E071	13922
chr11	83780713	83780836	E071	14092
chr11	83798079	83798143	E071	31458
chr11	83798234	83798340	E071	31613
chr11	83799928	83800083	E071	33307
chr11	83800331	83801111	E071	33710
chr11	83802344	83802474	E071	35723
chr11	83802476	83802605	E071	35855
chr11	83802882	83802962	E071	36261
chr11	83802996	83803046	E071	36375
chr11	83803182	83803261	E071	36561
chr11	83803425	83803582	E071	36804
chr11	83803628	83803688	E071	37007
chr11	83804181	83804225	E071	37560
chr11	83804227	83804277	E071	37606
chr11	83808819	83808879	E071	42198
chr11	83809419	83809469	E071	42798
chr11	83810129	83810274	E071	43508
chr11	83812163	83812242	E071	45542
chr11	83812246	83812355	E071	45625
chr11	83812396	83812564	E071	45775
chr11	83813569	83813653	E071	46948
chr11	83813777	83813863	E071	47156
chr11	83813923	83814028	E071	47302
chr11	83814184	83814464	E071	47563
chr11	83816491	83816555	E071	49870
chr11	83723259	83723517	E072	-43104
chr11	83723634	83723712	E072	-42909
chr11	83730512	83730749	E072	-35872
chr11	83730750	83730861	E072	-35760
chr11	83730877	83731201	E072	-35420
chr11	83731535	83732029	E072	-34592
chr11	83732338	83732559	E072	-34062
chr11	83732573	83732682	E072	-33939
chr11	83733136	83733655	E072	-32966
chr11	83733803	83734052	E072	-32569
chr11	83737308	83737358	E072	-29263
chr11	83768095	83768338	E072	1474
chr11	83771943	83772061	E072	5322
chr11	83772279	83772329	E072	5658
chr11	83772758	83773463	E072	6137
chr11	83780444	83780494	E072	13823
chr11	83780543	83780597	E072	13922
chr11	83780713	83780836	E072	14092
chr11	83787473	83787513	E072	20852
chr11	83802344	83802474	E072	35723
chr11	83802476	83802605	E072	35855
chr11	83802882	83802962	E072	36261
chr11	83802996	83803046	E072	36375
chr11	83803182	83803261	E072	36561
chr11	83811571	83811621	E072	44950
chr11	83812163	83812242	E072	45542
chr11	83812246	83812355	E072	45625
chr11	83812396	83812564	E072	45775
chr11	83813569	83813653	E072	46948
chr11	83813777	83813863	E072	47156
chr11	83813923	83814028	E072	47302
chr11	83814184	83814464	E072	47563
chr11	83723259	83723517	E073	-43104
chr11	83723634	83723712	E073	-42909
chr11	83730512	83730749	E073	-35872
chr11	83730750	83730861	E073	-35760
chr11	83730877	83731201	E073	-35420
chr11	83731535	83732029	E073	-34592
chr11	83733136	83733655	E073	-32966
chr11	83799928	83800083	E073	33307
chr11	83800331	83801111	E073	33710
chr11	83802344	83802474	E073	35723
chr11	83802476	83802605	E073	35855
chr11	83802882	83802962	E073	36261
chr11	83813569	83813653	E073	46948
chr11	83813777	83813863	E073	47156
chr11	83813923	83814028	E073	47302
chr11	83814184	83814464	E073	47563
chr11	83723259	83723517	E074	-43104
chr11	83723634	83723712	E074	-42909
chr11	83730512	83730749	E074	-35872
chr11	83730750	83730861	E074	-35760
chr11	83730877	83731201	E074	-35420
chr11	83731535	83732029	E074	-34592
chr11	83732338	83732559	E074	-34062
chr11	83732573	83732682	E074	-33939
chr11	83733136	83733655	E074	-32966
chr11	83733803	83734052	E074	-32569
chr11	83735199	83735249	E074	-31372
chr11	83735457	83735674	E074	-30947
chr11	83736391	83736431	E074	-30190
chr11	83736874	83736969	E074	-29652
chr11	83737308	83737358	E074	-29263
chr11	83767572	83767622	E074	951
chr11	83767695	83767745	E074	1074
chr11	83767798	83768033	E074	1177
chr11	83772572	83772622	E074	5951
chr11	83772758	83773463	E074	6137
chr11	83780444	83780494	E074	13823
chr11	83780543	83780597	E074	13922
chr11	83780713	83780836	E074	14092
chr11	83787473	83787513	E074	20852
chr11	83799928	83800083	E074	33307
chr11	83800331	83801111	E074	33710
chr11	83802344	83802474	E074	35723
chr11	83802476	83802605	E074	35855
chr11	83802882	83802962	E074	36261
chr11	83802996	83803046	E074	36375
chr11	83803182	83803261	E074	36561
chr11	83808113	83808316	E074	41492
chr11	83808353	83808567	E074	41732
chr11	83813569	83813653	E074	46948
chr11	83813777	83813863	E074	47156
chr11	83813923	83814028	E074	47302
chr11	83814184	83814464	E074	47563
chr11	83816491	83816555	E074	49870
chr11	83772758	83773463	E081	6137
chr11	83799928	83800083	E081	33307
chr11	83800331	83801111	E081	33710
chr11	83812163	83812242	E081	45542
chr11	83812246	83812355	E081	45625
chr11	83812396	83812564	E081	45775
chr11	83771943	83772061	E082	5322
chr11	83772279	83772329	E082	5658
chr11	83772572	83772622	E082	5951
chr11	83772758	83773463	E082	6137
chr11	83799928	83800083	E082	33307
chr11	83800331	83801111	E082	33710