rs7830120

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ADAM32 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0142 (4275/29944,GnomAD)
A=0209 (6088/29118,TOPMED)
A=0152 (763/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0001 (2/3708,TWINSUK)

Position: chr8:39274171 (GRCh38.p7) (8p11.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 4 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.39274171G>A
GRCh37.p13 chr 8	NC_000008.10:g.39131690G>A
GRCh38.p7 chr 8 alt locus HSCHR8_9_CTG1	NT_187577.1:g.179876G>A

Gene: ADAM32, ADAM metallopeptidase domain 32(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADAM32 transcript variant 2	NM_001313994.1:c.	N/A	Intron Variant
ADAM32 transcript variant 1	NM_145004.6:c.	N/A	Intron Variant
ADAM32 transcript variant X2	XM_006716298.2:c.	N/A	Intron Variant
ADAM32 transcript variant X7	XM_006716299.1:c.	N/A	Intron Variant
ADAM32 transcript variant X1	XM_011544433.1:c.	N/A	Intron Variant
ADAM32 transcript variant X6	XM_011544434.1:c.	N/A	Intron Variant
ADAM32 transcript variant X3	XM_017013183.1:c.	N/A	Intron Variant
ADAM32 transcript variant X4	XM_017013184.1:c.	N/A	Intron Variant
ADAM32 transcript variant X5	XM_017013185.1:c.	N/A	Intron Variant
ADAM32 transcript variant X8	XM_017013186.1:c.	N/A	Intron Variant
ADAM32 transcript variant X11	XM_017013187.1:c.	N/A	Intron Variant
ADAM32 transcript variant X12	XM_017013188.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.451	A=0.549
1000Genomes	American	Sub	694	G=0.950	A=0.050
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.999	A=0.001
1000Genomes	Global	Study-wide	5008	G=0.848	A=0.152
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.999	A=0.001
The Genome Aggregation Database	African	Sub	8696	G=0.513	A=0.487
The Genome Aggregation Database	American	Sub	838	G=0.970	A=0.030
The Genome Aggregation Database	East Asian	Sub	1620	G=0.999	A=0.001
The Genome Aggregation Database	Europe	Sub	18488	G=0.998	A=0.001
The Genome Aggregation Database	Global	Study-wide	29944	G=0.857	A=0.142
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.790	A=0.209
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.999	A=0.001

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
rs7830120	0.000931	alcohol dependence	21314694

eQTL of rs7830120 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 rs7830120 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.

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	39171963	39172402	E067	40273
chr8	39171963	39172402	E070	40273
chr8	39171963	39172402	E081	40273
chr8	39171963	39172402	E082	40273