rs17010983

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

ZNF385D : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0015 (471/29982,GnomAD)
A=0017 (495/29118,TOPMED)
A=0047 (235/5008,1000G)
A=0013 (52/3854,ALSPAC)
A=0012 (43/3708,TWINSUK)

Position: chr3:22188256 (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.22188256C>A
GRCh37.p13 chr 3	NC_000003.11:g.22229748C>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF385D transcript	NM_024697.2:c.	N/A	Genic Upstream Transcript 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 X4	XM_017007194.1:c.	N/A	Intron Variant
ZNF385D transcript variant X16	XM_017007203.1:c.	N/A	Intron Variant
ZNF385D transcript variant X3	XM_017007193.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X5	XM_017007195.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X6	XM_017007196.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X7	XM_017007197.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X8	XM_017007198.1:c.	N/A	Genic Upstream Transcript Variant
ZNF385D transcript variant X9	XM_017007199.1:c.	N/A	Genic Upstream Transcript 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	C=0.985	A=0.015
1000Genomes	American	Sub	694	C=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	C=0.930	A=0.070
1000Genomes	Europe	Sub	1006	C=0.986	A=0.014
1000Genomes	Global	Study-wide	5008	C=0.953	A=0.047
1000Genomes	South Asian	Sub	978	C=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.987	A=0.013
The Genome Aggregation Database	African	Sub	8726	C=0.984	A=0.016
The Genome Aggregation Database	American	Sub	834	C=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1622	C=0.943	A=0.057
The Genome Aggregation Database	Europe	Sub	18498	C=0.989	A=0.010
The Genome Aggregation Database	Global	Study-wide	29982	C=0.984	A=0.015
The Genome Aggregation Database	Other	Sub	302	C=0.980	A=0.020
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.983	A=0.017
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.988	A=0.012

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
rs17010983	0.000367	alcohol dependence	20201924

eQTL of rs17010983 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 rs17010983 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.