rs2336055

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

ZNF385D : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0201 (5872/29118,TOPMED)
T=0185 (5399/29036,GnomAD)
T=0188 (939/5008,1000G)
T=0224 (864/3854,ALSPAC)
T=0225 (833/3708,TWINSUK)

Position: chr3:21853595 (GRCh38.p7) (3p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers 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.21853595C>T
GRCh37.p13 chr 3	NC_000003.11:g.21895087C>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	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 X5	XM_017007195.1: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 X3	XM_017007193.1: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 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=0.842	T=0.158
1000Genomes	American	Sub	694	C=0.750	T=0.250
1000Genomes	East Asian	Sub	1008	C=0.832	T=0.168
1000Genomes	Europe	Sub	1006	C=0.802	T=0.198
1000Genomes	Global	Study-wide	5008	C=0.812	T=0.188
1000Genomes	South Asian	Sub	978	C=0.810	T=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.776	T=0.224
The Genome Aggregation Database	African	Sub	8554	C=0.832	T=0.168
The Genome Aggregation Database	American	Sub	780	C=0.750	T=0.250
The Genome Aggregation Database	East Asian	Sub	1554	C=0.825	T=0.175
The Genome Aggregation Database	Europe	Sub	17848	C=0.809	T=0.190
The Genome Aggregation Database	Global	Study-wide	29036	C=0.814	T=0.185
The Genome Aggregation Database	Other	Sub	300	C=0.690	T=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.798	T=0.201
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.775	T=0.225

PMID	Title	Author	Journal
19581569	Genome-wide association study of alcohol dependence.	Treutlein J	Arch Gen Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs2336055	5.36E-05	alcohol dependence	19581569

eQTL of rs2336055 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 rs2336055 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 )
chr3	21936235	21936377	E082	41148
chr3	21936392	21936472	E082	41305