rs6831359

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PALLD : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0084 (2519/29970,GnomAD)
G=0093 (2727/29118,TOPMED)
G=0083 (418/5008,1000G)
G=0100 (384/3854,ALSPAC)
G=0098 (364/3708,TWINSUK)

Position: chr4:168751479 (GRCh38.p7) (4q32.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.168751479A>G
GRCh37.p13 chr 4	NC_000004.11:g.169672630A>G
PALLD RefSeqGene	NG_013376.1:g.259414A>G

Gene: PALLD, palladin, cytoskeletal associated protein(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PALLD transcript variant 1	NM_001166108.1:c.	N/A	Intron Variant
PALLD transcript variant 3	NM_001166109.1:c.	N/A	Intron Variant
PALLD transcript variant 2	NM_016081.3:c.	N/A	Intron Variant
PALLD transcript variant 4	NM_001166110.1:c.	N/A	Genic Upstream Transcript Variant
PALLD transcript variant X4	XM_005262861.4:c.	N/A	Intron Variant
PALLD transcript variant X10	XM_005262866.2:c.	N/A	Intron Variant
PALLD transcript variant X1	XM_011531768.2:c.	N/A	Intron Variant
PALLD transcript variant X2	XM_011531769.2:c.	N/A	Intron Variant
PALLD transcript variant X3	XM_011531770.2:c.	N/A	Intron Variant
PALLD transcript variant X6	XM_011531771.2:c.	N/A	Intron Variant
PALLD transcript variant X7	XM_011531772.2:c.	N/A	Intron Variant
PALLD transcript variant X8	XM_011531773.1:c.	N/A	Intron Variant
PALLD transcript variant X9	XM_011531774.1:c.	N/A	Intron Variant
PALLD transcript variant X11	XM_011531775.1:c.	N/A	Intron Variant
PALLD transcript variant X5	XM_017007910.1:c.	N/A	Intron Variant
PALLD transcript variant X13	XM_017007911.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.932	G=0.068
1000Genomes	American	Sub	694	A=0.910	G=0.090
1000Genomes	East Asian	Sub	1008	A=0.962	G=0.038
1000Genomes	Europe	Sub	1006	A=0.907	G=0.093
1000Genomes	Global	Study-wide	5008	A=0.917	G=0.083
1000Genomes	South Asian	Sub	978	A=0.860	G=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.900	G=0.100
The Genome Aggregation Database	African	Sub	8730	A=0.914	G=0.086
The Genome Aggregation Database	American	Sub	838	A=0.890	G=0.110
The Genome Aggregation Database	East Asian	Sub	1620	A=0.959	G=0.041
The Genome Aggregation Database	Europe	Sub	18480	A=0.914	G=0.086
The Genome Aggregation Database	Global	Study-wide	29970	A=0.915	G=0.084
The Genome Aggregation Database	Other	Sub	302	A=0.920	G=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.906	G=0.093
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.902	G=0.098

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
rs6831359	0.000825	alcohol dependence	21314694

eQTL of rs6831359 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 rs6831359 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 )
chr4	169632033	169632126	E068	-40504
chr4	169632358	169632685	E068	-39945
chr4	169632791	169632946	E068	-39684
chr4	169631565	169632011	E069	-40619
chr4	169632033	169632126	E069	-40504
chr4	169632358	169632685	E069	-39945
chr4	169705573	169706579	E070	32943
chr4	169706603	169706729	E071	33973
chr4	169705573	169706579	E074	32943
chr4	169657410	169657568	E081	-15062
chr4	169657666	169657821	E081	-14809
chr4	169657913	169658027	E081	-14603
chr4	169658115	169658165	E081	-14465
chr4	169658303	169659444	E081	-13186
chr4	169657913	169658027	E082	-14603
chr4	169658115	169658165	E082	-14465
chr4	169658303	169659444	E082	-13186