rs924136

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

ABCC1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0387 (11601/29930,GnomAD)
A=0311 (9075/29118,TOPMED)
A=0304 (1520/5008,1000G)
G==0480 (1849/3854,ALSPAC)
G==0485 (1798/3708,TWINSUK)

Position: chr16:16032618 (GRCh38.p7) (16p13.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.16032618G>A
GRCh38.p7 chr 16	NC_000016.10:g.16032618G>C
GRCh37.p13 chr 16	NC_000016.9:g.16126475G>A
GRCh37.p13 chr 16	NC_000016.9:g.16126475G>C
ABCC1 RefSeqGene	NG_028268.1:g.88042G>A
ABCC1 RefSeqGene	NG_028268.1:g.88042G>C
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1690511A>G
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1690511A>C

Gene: ABCC1, ATP binding cassette subfamily C member 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC1 transcript	NM_004996.3:c.	N/A	Intron Variant
ABCC1 transcript variant X2	XM_011522497.1:c.	N/A	Intron Variant
ABCC1 transcript variant X5	XM_011522498.2:c.	N/A	Intron Variant
ABCC1 transcript variant X1	XM_017023237.1:c.	N/A	Intron Variant
ABCC1 transcript variant X3	XM_017023238.1:c.	N/A	Intron Variant
ABCC1 transcript variant X4	XM_017023239.1:c.	N/A	Intron Variant
ABCC1 transcript variant X6	XM_017023240.1:c.	N/A	Intron Variant
ABCC1 transcript variant X7	XM_017023241.1:c.	N/A	Intron Variant
ABCC1 transcript variant X8	XM_017023242.1:c.	N/A	Intron Variant
ABCC1 transcript variant X9	XM_017023243.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.971	A=0.029
1000Genomes	American	Sub	694	G=0.500	A=0.500
1000Genomes	East Asian	Sub	1008	G=0.665	A=0.335
1000Genomes	Europe	Sub	1006	G=0.489	A=0.511
1000Genomes	Global	Study-wide	5008	G=0.696	A=0.304
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=0.480	A=0.520
The Genome Aggregation Database	African	Sub	8720	G=0.891	A=0.109
The Genome Aggregation Database	American	Sub	838	G=0.530	A=0.470
The Genome Aggregation Database	East Asian	Sub	1612	G=0.659	A=0.341
The Genome Aggregation Database	Europe	Sub	18458	G=0.481	A=0.518
The Genome Aggregation Database	Global	Study-wide	29930	G=0.612	A=0.387
The Genome Aggregation Database	Other	Sub	302	G=0.560	A=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.688	A=0.311
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.485	A=0.515

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
rs924136	0.000283	alcohol dependence	21314694

eQTL of rs924136 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 rs924136 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 )
chr16	27474878	27475552	E068	33341
chr16	27475625	27475895	E068	34088
chr16	27442029	27442119	E071	492
chr16	27468136	27469030	E072	26599
chr16	27486863	27487514	E082	45326