SNP Detail Info-rs10411526

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

FBN3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0416 (12124/29118,TOPMED)
G=0386 (11207/28970,GnomAD)
G=0290 (1451/5008,1000G)
G=0376 (1450/3854,ALSPAC)
G=0383 (1421/3708,TWINSUK)

Position: chr19:8107797 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 28 Enhancers around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.8107797A>G
GRCh37.p13 chr 19	NC_000019.9:g.8172681A>G

Molecule type	Change	Amino acid[Codon]	SO Term
FBN3 transcript variant 2	NM_001321431.1:c.	N/A	Intron Variant
FBN3 transcript variant 1	NM_032447.4:c.	N/A	Intron Variant
FBN3 transcript variant X1	XM_017027372.1:c.	N/A	Intron Variant
FBN3 transcript variant X2	XM_017027373.1:c.	N/A	Intron Variant
FBN3 transcript variant X3	XM_017027374.1:c.	N/A	Intron Variant
FBN3 transcript variant X4	XM_017027375.1:c.	N/A	Intron Variant
FBN3 transcript variant X5	XM_017027376.1:c.	N/A	Intron Variant
FBN3 transcript variant X6	XM_017027377.1:c.	N/A	Intron Variant
FBN3 transcript variant X7	XM_017027378.1:c.	N/A	Intron Variant
FBN3 transcript variant X8	XM_017027379.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.483	G=0.517
1000Genomes	American	Sub	694	A=0.750	G=0.250
1000Genomes	East Asian	Sub	1008	A=0.953	G=0.047
1000Genomes	Europe	Sub	1006	A=0.635	G=0.365
1000Genomes	Global	Study-wide	5008	A=0.710	G=0.290
1000Genomes	South Asian	Sub	978	A=0.820	G=0.180
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.624	G=0.376
The Genome Aggregation Database	African	Sub	8422	A=0.513	G=0.487
The Genome Aggregation Database	American	Sub	826	A=0.760	G=0.240
The Genome Aggregation Database	East Asian	Sub	1578	A=0.940	G=0.060
The Genome Aggregation Database	Europe	Sub	17846	A=0.624	G=0.375
The Genome Aggregation Database	Global	Study-wide	28970	A=0.613	G=0.386
The Genome Aggregation Database	Other	Sub	298	A=0.610	G=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.583	G=0.416
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.617	G=0.383

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs10411526	0.000755	alcohol dependence	24277619

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 )
chr19	8212926	8212983	E067	40245
chr19	8219398	8220209	E067	46717
chr19	8219398	8220209	E068	46717
chr19	8218493	8218562	E069	45812
chr19	8219398	8220209	E069	46717
chr19	8207975	8208025	E070	35294
chr19	8208093	8208295	E070	35412
chr19	8218993	8219160	E070	46312
chr19	8219398	8220209	E070	46717
chr19	8218170	8218235	E071	45489
chr19	8218330	8218431	E071	45649
chr19	8218493	8218562	E071	45812
chr19	8218993	8219160	E071	46312
chr19	8218493	8218562	E072	45812
chr19	8219398	8220209	E072	46717
chr19	8219398	8220209	E073	46717
chr19	8219398	8220209	E074	46717
chr19	8207975	8208025	E081	35294
chr19	8208516	8208576	E081	35835
chr19	8211826	8212015	E081	39145
chr19	8212041	8212140	E081	39360
chr19	8212154	8212204	E081	39473
chr19	8212232	8212819	E081	39551
chr19	8212926	8212983	E081	40245
chr19	8219398	8220209	E081	46717
chr19	8211826	8212015	E082	39145
chr19	8212041	8212140	E082	39360
chr19	8212154	8212204	E082	39473

rs10411526