SNP Detail Info-rs4430687

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

UNC13C : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0397 (11832/29768,GnomAD)
G=0355 (10346/29118,TOPMED)
G=0429 (2147/5008,1000G)
G=0442 (1703/3854,ALSPAC)
G=0427 (1585/3708,TWINSUK)

Position: chr15:54310022 (GRCh38.p7) (15q21.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.54310022C>G
GRCh37.p13 chr 15	NC_000015.9:g.54602220C>G

Molecule type	Change	Amino acid[Codon]	SO Term
UNC13C transcript	NM_001080534.1:c.	N/A	Intron Variant
UNC13C transcript variant X1	XM_005254394.4:c.	N/A	Intron Variant
UNC13C transcript variant X2	XM_017022220.1:c.	N/A	Intron Variant
UNC13C transcript variant X3	XM_017022221.1:c.	N/A	Intron Variant
UNC13C transcript variant X4	XM_017022222.1:c.	N/A	Intron Variant
UNC13C transcript variant X5	XM_017022223.1:c.	N/A	Intron Variant
UNC13C transcript variant X6	XM_017022224.1:c.	N/A	Intron Variant
UNC13C transcript variant X7	XM_017022225.1:c.	N/A	Intron Variant
UNC13C transcript variant X6	XR_001751291.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.725	G=0.275
1000Genomes	American	Sub	694	C=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	C=0.506	G=0.494
1000Genomes	Europe	Sub	1006	C=0.562	G=0.438
1000Genomes	Global	Study-wide	5008	C=0.571	G=0.429
1000Genomes	South Asian	Sub	978	C=0.370	G=0.630
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.558	G=0.442
The Genome Aggregation Database	African	Sub	8700	C=0.711	G=0.289
The Genome Aggregation Database	American	Sub	834	C=0.630	G=0.370
The Genome Aggregation Database	East Asian	Sub	1540	C=0.488	G=0.512
The Genome Aggregation Database	Europe	Sub	18392	C=0.558	G=0.441
The Genome Aggregation Database	Global	Study-wide	29768	C=0.602	G=0.397
The Genome Aggregation Database	Other	Sub	302	C=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.644	G=0.355
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.573	G=0.427

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs4430687	0.000325	nicotine dependence	17158188

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 )
chr15	54613763	54613864	E070	11543
chr15	54614013	54614084	E070	11793
chr15	54614508	54615158	E070	12288
chr15	54613763	54613864	E081	11543
chr15	54614013	54614084	E081	11793
chr15	54614508	54615158	E081	12288
chr15	54615231	54615300	E081	13011
chr15	54615798	54615850	E081	13578
chr15	54615900	54615991	E081	13680
chr15	54612044	54612144	E082	9824
chr15	54612494	54612544	E082	10274
chr15	54613763	54613864	E082	11543
chr15	54614013	54614084	E082	11793
chr15	54615900	54615991	E082	13680

rs4430687