rs2485381

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

PDE4B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0217 (6477/29854,GnomAD)
G==0227 (6618/29118,TOPMED)
G==0319 (1596/5008,1000G)
G==0168 (646/3854,ALSPAC)
G==0173 (641/3708,TWINSUK)

Position: chr1:66162049 (GRCh38.p7) (1p31.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 299 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.66162049G>A
GRCh37.p13 chr 1	NC_000001.10:g.66627732G>A
PDE4B RefSeqGene	NG_029038.1:g.374540G>A

Gene: PDE4B, phosphodiesterase 4B(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PDE4B transcript variant c	NM_001037340.2:c.	N/A	Intron Variant
PDE4B transcript variant d	NM_001037341.1:c.	N/A	Intron Variant
PDE4B transcript variant e	NM_001297440.1:c.	N/A	Intron Variant
PDE4B transcript variant f	NM_001297441.1:c.	N/A	Intron Variant
PDE4B transcript variant a	NM_002600.3:c.	N/A	Intron Variant
PDE4B transcript variant b	NM_001037339.2:c.	N/A	Genic Upstream Transcript Variant
PDE4B transcript variant g	NM_001297442.1:c.	N/A	Genic Upstream Transcript Variant
PDE4B transcript variant X3	XM_011541566.1:c.	N/A	Intron Variant
PDE4B transcript variant X4	XM_017001446.1:c.	N/A	Intron Variant
PDE4B transcript variant X3	XM_005270924.3:c.	N/A	Genic Upstream Transcript Variant
PDE4B transcript variant X4	XM_005270925.2:c.	N/A	Genic Upstream Transcript Variant
PDE4B transcript variant X2	XM_006710680.3:c.	N/A	Genic Upstream Transcript Variant
PDE4B transcript variant X1	XM_017001445.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.294	A=0.706
1000Genomes	American	Sub	694	G=0.270	A=0.730
1000Genomes	East Asian	Sub	1008	G=0.411	A=0.589
1000Genomes	Europe	Sub	1006	G=0.170	A=0.830
1000Genomes	Global	Study-wide	5008	G=0.319	A=0.681
1000Genomes	South Asian	Sub	978	G=0.440	A=0.560
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.168	A=0.832
The Genome Aggregation Database	African	Sub	8674	G=0.286	A=0.714
The Genome Aggregation Database	American	Sub	828	G=0.290	A=0.710
The Genome Aggregation Database	East Asian	Sub	1608	G=0.391	A=0.609
The Genome Aggregation Database	Europe	Sub	18442	G=0.166	A=0.833
The Genome Aggregation Database	Global	Study-wide	29854	G=0.217	A=0.783
The Genome Aggregation Database	Other	Sub	302	G=0.190	A=0.810
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.227	A=0.772
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.173	A=0.827

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs2485381	0.000844	alcohol dependence	24277619

eQTL of rs2485381 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 rs2485381 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 )
chr1	66578870	66578976	E067	-48756
chr1	66579087	66579189	E067	-48543
chr1	66579257	66579311	E067	-48421
chr1	66589787	66590193	E067	-37539
chr1	66598116	66598245	E067	-29487
chr1	66598544	66598681	E067	-29051
chr1	66599859	66599913	E067	-27819
chr1	66602264	66602366	E067	-25366
chr1	66602976	66603177	E067	-24555
chr1	66605838	66605892	E067	-21840
chr1	66605922	66606022	E067	-21710
chr1	66606036	66606086	E067	-21646
chr1	66606230	66606354	E067	-21378
chr1	66606459	66606613	E067	-21119
chr1	66606658	66606764	E067	-20968
chr1	66609423	66609636	E067	-18096
chr1	66611441	66611485	E067	-16247
chr1	66622345	66622457	E067	-5275
chr1	66626543	66626602	E067	-1130
chr1	66632439	66632793	E067	4707
chr1	66634623	66634730	E067	6891
chr1	66634786	66634945	E067	7054
chr1	66635013	66635100	E067	7281
chr1	66635150	66635339	E067	7418
chr1	66641816	66641936	E067	14084
chr1	66641971	66642097	E067	14239
chr1	66642569	66642638	E067	14837
chr1	66642680	66642768	E067	14948
chr1	66643238	66643400	E067	15506
chr1	66646676	66646751	E067	18944
chr1	66647858	66647940	E067	20126
chr1	66648268	66648724	E067	20536
chr1	66648759	66648831	E067	21027
chr1	66649115	66649176	E067	21383
chr1	66649454	66649506	E067	21722
chr1	66663311	66663394	E067	35579
chr1	66663519	66663994	E067	35787
chr1	66672288	66672566	E067	44556
chr1	66672569	66672769	E067	44837
chr1	66673328	66673486	E067	45596
chr1	66578870	66578976	E068	-48756
chr1	66579087	66579189	E068	-48543
chr1	66587345	66587480	E068	-40252
chr1	66589325	66589449	E068	-38283
chr1	66589640	66589698	E068	-38034
chr1	66589787	66590193	E068	-37539
chr1	66597482	66597532	E068	-30200
chr1	66598116	66598245	E068	-29487
chr1	66598544	66598681	E068	-29051
chr1	66599859	66599913	E068	-27819
chr1	66602976	66603177	E068	-24555
chr1	66605838	66605892	E068	-21840
chr1	66605922	66606022	E068	-21710
chr1	66606036	66606086	E068	-21646
chr1	66606230	66606354	E068	-21378
chr1	66606459	66606613	E068	-21119
chr1	66606658	66606764	E068	-20968
chr1	66608021	66608137	E068	-19595
chr1	66608189	66608265	E068	-19467
chr1	66609423	66609636	E068	-18096
chr1	66611441	66611485	E068	-16247
chr1	66622345	66622457	E068	-5275
chr1	66626543	66626602	E068	-1130
chr1	66634139	66634379	E068	6407
chr1	66634498	66634548	E068	6766
chr1	66634623	66634730	E068	6891
chr1	66634786	66634945	E068	7054
chr1	66640966	66641040	E068	13234
chr1	66641816	66641936	E068	14084
chr1	66641971	66642097	E068	14239
chr1	66642569	66642638	E068	14837
chr1	66642680	66642768	E068	14948
chr1	66643238	66643400	E068	15506
chr1	66646676	66646751	E068	18944
chr1	66647858	66647940	E068	20126
chr1	66648268	66648724	E068	20536
chr1	66649454	66649506	E068	21722
chr1	66672288	66672566	E068	44556
chr1	66672569	66672769	E068	44837
chr1	66673328	66673486	E068	45596
chr1	66578870	66578976	E069	-48756
chr1	66589325	66589449	E069	-38283
chr1	66589640	66589698	E069	-38034
chr1	66589787	66590193	E069	-37539
chr1	66598116	66598245	E069	-29487
chr1	66598544	66598681	E069	-29051
chr1	66599859	66599913	E069	-27819
chr1	66602062	66602172	E069	-25560
chr1	66602264	66602366	E069	-25366
chr1	66602976	66603177	E069	-24555
chr1	66603284	66603357	E069	-24375
chr1	66605838	66605892	E069	-21840
chr1	66605922	66606022	E069	-21710
chr1	66606036	66606086	E069	-21646
chr1	66606230	66606354	E069	-21378
chr1	66606459	66606613	E069	-21119
chr1	66606658	66606764	E069	-20968
chr1	66608021	66608137	E069	-19595
chr1	66608189	66608265	E069	-19467
chr1	66609423	66609636	E069	-18096
chr1	66613046	66613163	E069	-14569
chr1	66622345	66622457	E069	-5275
chr1	66626543	66626602	E069	-1130
chr1	66634139	66634379	E069	6407
chr1	66634498	66634548	E069	6766
chr1	66634623	66634730	E069	6891
chr1	66634786	66634945	E069	7054
chr1	66640966	66641040	E069	13234
chr1	66641816	66641936	E069	14084
chr1	66641971	66642097	E069	14239
chr1	66642569	66642638	E069	14837
chr1	66642680	66642768	E069	14948
chr1	66643238	66643400	E069	15506
chr1	66646676	66646751	E069	18944
chr1	66648268	66648724	E069	20536
chr1	66648759	66648831	E069	21027
chr1	66649115	66649176	E069	21383
chr1	66663311	66663394	E069	35579
chr1	66663519	66663994	E069	35787
chr1	66672288	66672566	E069	44556
chr1	66672569	66672769	E069	44837
chr1	66676436	66676524	E069	48704
chr1	66634498	66634548	E070	6766
chr1	66640966	66641040	E070	13234
chr1	66641816	66641936	E070	14084
chr1	66641971	66642097	E070	14239
chr1	66642569	66642638	E070	14837
chr1	66642680	66642768	E070	14948
chr1	66648268	66648724	E070	20536
chr1	66648759	66648831	E070	21027
chr1	66649115	66649176	E070	21383
chr1	66578870	66578976	E071	-48756
chr1	66579087	66579189	E071	-48543
chr1	66579257	66579311	E071	-48421
chr1	66587345	66587480	E071	-40252
chr1	66589325	66589449	E071	-38283
chr1	66589640	66589698	E071	-38034
chr1	66589787	66590193	E071	-37539
chr1	66598116	66598245	E071	-29487
chr1	66598544	66598681	E071	-29051
chr1	66599859	66599913	E071	-27819
chr1	66602976	66603177	E071	-24555
chr1	66603284	66603357	E071	-24375
chr1	66605838	66605892	E071	-21840
chr1	66605922	66606022	E071	-21710
chr1	66606036	66606086	E071	-21646
chr1	66606230	66606354	E071	-21378
chr1	66606459	66606613	E071	-21119
chr1	66608021	66608137	E071	-19595
chr1	66608189	66608265	E071	-19467
chr1	66609423	66609636	E071	-18096
chr1	66611441	66611485	E071	-16247
chr1	66613046	66613163	E071	-14569
chr1	66622345	66622457	E071	-5275
chr1	66626543	66626602	E071	-1130
chr1	66634139	66634379	E071	6407
chr1	66634498	66634548	E071	6766
chr1	66634623	66634730	E071	6891
chr1	66634786	66634945	E071	7054
chr1	66635150	66635339	E071	7418
chr1	66640966	66641040	E071	13234
chr1	66641816	66641936	E071	14084
chr1	66641971	66642097	E071	14239
chr1	66642569	66642638	E071	14837
chr1	66642680	66642768	E071	14948
chr1	66643238	66643400	E071	15506
chr1	66646676	66646751	E071	18944
chr1	66648268	66648724	E071	20536
chr1	66648759	66648831	E071	21027
chr1	66649115	66649176	E071	21383
chr1	66649454	66649506	E071	21722
chr1	66663311	66663394	E071	35579
chr1	66663519	66663994	E071	35787
chr1	66672288	66672566	E071	44556
chr1	66672569	66672769	E071	44837
chr1	66673328	66673486	E071	45596
chr1	66578870	66578976	E072	-48756
chr1	66579087	66579189	E072	-48543
chr1	66579257	66579311	E072	-48421
chr1	66589787	66590193	E072	-37539
chr1	66597482	66597532	E072	-30200
chr1	66598544	66598681	E072	-29051
chr1	66599859	66599913	E072	-27819
chr1	66602062	66602172	E072	-25560
chr1	66602264	66602366	E072	-25366
chr1	66602976	66603177	E072	-24555
chr1	66608021	66608137	E072	-19595
chr1	66608189	66608265	E072	-19467
chr1	66609423	66609636	E072	-18096
chr1	66611441	66611485	E072	-16247
chr1	66613046	66613163	E072	-14569
chr1	66622345	66622457	E072	-5275
chr1	66626543	66626602	E072	-1130
chr1	66634623	66634730	E072	6891
chr1	66634786	66634945	E072	7054
chr1	66635013	66635100	E072	7281
chr1	66635150	66635339	E072	7418
chr1	66640966	66641040	E072	13234
chr1	66641816	66641936	E072	14084
chr1	66641971	66642097	E072	14239
chr1	66642569	66642638	E072	14837
chr1	66642680	66642768	E072	14948
chr1	66643238	66643400	E072	15506
chr1	66646676	66646751	E072	18944
chr1	66647858	66647940	E072	20126
chr1	66648268	66648724	E072	20536
chr1	66648759	66648831	E072	21027
chr1	66649115	66649176	E072	21383
chr1	66649454	66649506	E072	21722
chr1	66672288	66672566	E072	44556
chr1	66672569	66672769	E072	44837
chr1	66673328	66673486	E072	45596
chr1	66589325	66589449	E073	-38283
chr1	66598544	66598681	E073	-29051
chr1	66599859	66599913	E073	-27819
chr1	66602976	66603177	E073	-24555
chr1	66603284	66603357	E073	-24375
chr1	66626543	66626602	E073	-1130
chr1	66634139	66634379	E073	6407
chr1	66634498	66634548	E073	6766
chr1	66634623	66634730	E073	6891
chr1	66634786	66634945	E073	7054
chr1	66635013	66635100	E073	7281
chr1	66635150	66635339	E073	7418
chr1	66641816	66641936	E073	14084
chr1	66641971	66642097	E073	14239
chr1	66642569	66642638	E073	14837
chr1	66642680	66642768	E073	14948
chr1	66643238	66643400	E073	15506
chr1	66648268	66648724	E073	20536
chr1	66648759	66648831	E073	21027
chr1	66649115	66649176	E073	21383
chr1	66578870	66578976	E074	-48756
chr1	66579087	66579189	E074	-48543
chr1	66579257	66579311	E074	-48421
chr1	66587345	66587480	E074	-40252
chr1	66589325	66589449	E074	-38283
chr1	66589640	66589698	E074	-38034
chr1	66589787	66590193	E074	-37539
chr1	66598116	66598245	E074	-29487
chr1	66598544	66598681	E074	-29051
chr1	66599859	66599913	E074	-27819
chr1	66602062	66602172	E074	-25560
chr1	66602264	66602366	E074	-25366
chr1	66602976	66603177	E074	-24555
chr1	66603284	66603357	E074	-24375
chr1	66605838	66605892	E074	-21840
chr1	66605922	66606022	E074	-21710
chr1	66606036	66606086	E074	-21646
chr1	66606230	66606354	E074	-21378
chr1	66606459	66606613	E074	-21119
chr1	66606658	66606764	E074	-20968
chr1	66608021	66608137	E074	-19595
chr1	66608189	66608265	E074	-19467
chr1	66609423	66609636	E074	-18096
chr1	66611441	66611485	E074	-16247
chr1	66613046	66613163	E074	-14569
chr1	66622345	66622457	E074	-5275
chr1	66626543	66626602	E074	-1130
chr1	66632439	66632793	E074	4707
chr1	66634139	66634379	E074	6407
chr1	66634498	66634548	E074	6766
chr1	66634623	66634730	E074	6891
chr1	66634786	66634945	E074	7054
chr1	66635013	66635100	E074	7281
chr1	66635150	66635339	E074	7418
chr1	66640966	66641040	E074	13234
chr1	66641816	66641936	E074	14084
chr1	66641971	66642097	E074	14239
chr1	66642569	66642638	E074	14837
chr1	66642680	66642768	E074	14948
chr1	66643238	66643400	E074	15506
chr1	66646676	66646751	E074	18944
chr1	66647858	66647940	E074	20126
chr1	66648268	66648724	E074	20536
chr1	66648759	66648831	E074	21027
chr1	66649115	66649176	E074	21383
chr1	66649454	66649506	E074	21722
chr1	66663311	66663394	E074	35579
chr1	66663519	66663994	E074	35787
chr1	66672569	66672769	E074	44837
chr1	66673328	66673486	E074	45596
chr1	66676436	66676524	E074	48704
chr1	66589325	66589449	E081	-38283
chr1	66634139	66634379	E081	6407
chr1	66634498	66634548	E081	6766
chr1	66634623	66634730	E081	6891
chr1	66634786	66634945	E081	7054
chr1	66635013	66635100	E081	7281
chr1	66635150	66635339	E081	7418
chr1	66589325	66589449	E082	-38283
chr1	66634139	66634379	E082	6407
chr1	66634498	66634548	E082	6766
chr1	66634623	66634730	E082	6891
chr1	66634786	66634945	E082	7054
chr1	66641816	66641936	E082	14084
chr1	66641971	66642097	E082	14239
chr1	66642569	66642638	E082	14837
chr1	66642680	66642768	E082	14948