SNP Detail Info-rs1321108

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

TSHB : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0425 (12692/29854,GnomAD)
G=0404 (11772/29118,TOPMED)
G=0389 (1950/5008,1000G)
G=0479 (1845/3854,ALSPAC)
G=0490 (1816/3708,TWINSUK)

Position: chr1:115029744 (GRCh38.p7) (1p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
TSHB transcript variant 1	NM_000549.4:c.	N/A	Upstream Transcript Variant
TSHB transcript variant 2	NM_001277991.1:c.	N/A	N/A
TSHB transcript variant X1	XM_011542065.2:c.	N/A	N/A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.727	G=0.273
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.472	G=0.528
1000Genomes	Europe	Sub	1006	A=0.543	G=0.457
1000Genomes	Global	Study-wide	5008	A=0.611	G=0.389
1000Genomes	South Asian	Sub	978	A=0.680	G=0.320
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.521	G=0.479
The Genome Aggregation Database	African	Sub	8710	A=0.706	G=0.294
The Genome Aggregation Database	American	Sub	836	A=0.580	G=0.420
The Genome Aggregation Database	East Asian	Sub	1606	A=0.506	G=0.494
The Genome Aggregation Database	Europe	Sub	18402	A=0.520	G=0.479
The Genome Aggregation Database	Global	Study-wide	29854	A=0.574	G=0.425
The Genome Aggregation Database	Other	Sub	300	A=0.460	G=0.540
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.595	G=0.404
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.510	G=0.490

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res
24366283	Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure.	Pyun JA	Menopause

SNP ID	p-value	Traits	Study
rs1321108	2.09E-05	alcohol consumption	23953852

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:115572365	TSPAN2	ENSG00000134198.5	A>G	5.2445e-13	-59756	Cerebellum

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

rs1321108