rs4488861

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

ZNF385D : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0423 (12671/29890,GnomAD)
A=0385 (11230/29118,TOPMED)
A=0343 (1720/5008,1000G)
G==0498 (1920/3854,ALSPAC)
A=0492 (1825/3708,TWINSUK)

Position: chr3:21695081 (GRCh38.p7) (3p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.21695081G>A
GRCh38.p7 chr 3	NC_000003.12:g.21695081G>T
GRCh37.p13 chr 3	NC_000003.11:g.21736573G>A
GRCh37.p13 chr 3	NC_000003.11:g.21736573G>T

Gene: ZNF385D, zinc finger protein 385D(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF385D transcript	NM_024697.2:c.	N/A	Intron Variant
ZNF385D transcript variant X12	XM_011534122.1:c.	N/A	Intron Variant
ZNF385D transcript variant X13	XM_011534123.2:c.	N/A	Intron Variant
ZNF385D transcript variant X14	XM_011534124.2:c.	N/A	Intron Variant
ZNF385D transcript variant X1	XM_017007191.1:c.	N/A	Intron Variant
ZNF385D transcript variant X2	XM_017007192.1:c.	N/A	Intron Variant
ZNF385D transcript variant X3	XM_017007193.1:c.	N/A	Intron Variant
ZNF385D transcript variant X4	XM_017007194.1:c.	N/A	Intron Variant
ZNF385D transcript variant X5	XM_017007195.1:c.	N/A	Intron Variant
ZNF385D transcript variant X6	XM_017007196.1:c.	N/A	Intron Variant
ZNF385D transcript variant X7	XM_017007197.1:c.	N/A	Intron Variant
ZNF385D transcript variant X8	XM_017007198.1:c.	N/A	Intron Variant
ZNF385D transcript variant X9	XM_017007199.1:c.	N/A	Intron Variant
ZNF385D transcript variant X16	XM_017007203.1:c.	N/A	Intron Variant
ZNF385D transcript variant X10	XM_017007200.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X11	XM_017007201.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X15	XM_017007202.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.735	A=0.265
1000Genomes	American	Sub	694	G=0.660	A=0.340
1000Genomes	East Asian	Sub	1008	G=0.786	A=0.214
1000Genomes	Europe	Sub	1006	G=0.483	A=0.517
1000Genomes	Global	Study-wide	5008	G=0.657	A=0.343
1000Genomes	South Asian	Sub	978	G=0.600	A=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.498	A=0.502
The Genome Aggregation Database	African	Sub	8700	G=0.708	A=0.292
The Genome Aggregation Database	American	Sub	834	G=0.680	A=0.32,
The Genome Aggregation Database	East Asian	Sub	1618	G=0.810	A=0.190
The Genome Aggregation Database	Europe	Sub	18438	G=0.489	A=0.510
The Genome Aggregation Database	Global	Study-wide	29890	G=0.576	A=0.423
The Genome Aggregation Database	Other	Sub	300	G=0.500	A=0.50,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.614	A=0.385
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.508	A=0.492

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
rs4488861	0.00069	alcohol dependence	20201924

eQTL of rs4488861 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 rs4488861 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.