SNP Detail Info-rs12956780

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF407 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0298 (8946/29938,GnomAD)
A=0354 (10330/29118,TOPMED)
A=0269 (1348/5008,1000G)
A=0302 (1164/3854,ALSPAC)
A=0289 (1070/3708,TWINSUK)

Position: chr18:74792062 (GRCh38.p7) (18q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 26 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF407 transcript variant 2	NM_001146189.1:c.	N/A	Intron Variant
ZNF407 transcript variant 3	NM_001146190.1:c.	N/A	Intron Variant
ZNF407 transcript variant 1	NM_017757.2:c.	N/A	Intron Variant
ZNF407 transcript variant X2	XM_005266726.4:c.	N/A	Intron Variant
ZNF407 transcript variant X2	XM_011526068.2:c.	N/A	Intron Variant
ZNF407 transcript variant X4	XM_011526069.2:c.	N/A	Intron Variant
ZNF407 transcript variant X5	XM_011526070.1:c.	N/A	Intron Variant
ZNF407 transcript variant X3	XM_017025838.1:c.	N/A	Intron Variant
ZNF407 transcript variant X6	XM_006722500.3:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.559	A=0.441
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.950	A=0.050
1000Genomes	Europe	Sub	1006	G=0.706	A=0.294
1000Genomes	Global	Study-wide	5008	G=0.731	A=0.269
1000Genomes	South Asian	Sub	978	G=0.710	A=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.698	A=0.302
The Genome Aggregation Database	African	Sub	8712	G=0.573	A=0.427
The Genome Aggregation Database	American	Sub	838	G=0.850	A=0.150
The Genome Aggregation Database	East Asian	Sub	1618	G=0.946	A=0.054
The Genome Aggregation Database	Europe	Sub	18468	G=0.731	A=0.268
The Genome Aggregation Database	Global	Study-wide	29938	G=0.701	A=0.298
The Genome Aggregation Database	Other	Sub	302	G=0.810	A=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.645	A=0.354
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.711	A=0.289

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs12956780	9.44E-06	alcohol dependence (age at onset)	24962325

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr18	72548188	72548580	E067	44170
chr18	72548619	72548932	E067	44601
chr18	72509582	72509739	E068	5564
chr18	72508835	72509567	E069	4817
chr18	72509582	72509739	E069	5564
chr18	72492278	72492328	E070	-11690
chr18	72497750	72497820	E070	-6198
chr18	72508439	72508756	E070	4421
chr18	72508835	72509567	E070	4817
chr18	72509582	72509739	E070	5564
chr18	72509820	72510344	E070	5802
chr18	72539571	72539621	E070	35553
chr18	72540180	72540243	E070	36162
chr18	72540297	72540398	E070	36279
chr18	72548188	72548580	E070	44170
chr18	72548188	72548580	E074	44170
chr18	72507643	72508030	E081	3625
chr18	72508315	72508373	E081	4297
chr18	72508439	72508756	E081	4421
chr18	72508835	72509567	E081	4817
chr18	72509582	72509739	E081	5564
chr18	72507643	72508030	E082	3625
chr18	72508315	72508373	E082	4297
chr18	72508439	72508756	E082	4421
chr18	72508835	72509567	E082	4817
chr18	72509582	72509739	E082	5564

rs12956780