SNP Detail Info-rs6678986

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

FH : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0055 (1671/29916,GnomAD)
G=0067 (1964/29116,TOPMED)
G=0069 (344/5008,1000G)
G=0024 (94/3854,ALSPAC)
G=0026 (96/3708,TWINSUK)

Position: chr1:241521531 (GRCh38.p7) (1q43)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 12 Enhancers around

Promoter: 40 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
FH transcript	NM_000143.3:c.	N/A	Upstream Transcript Variant
FH transcript variant X1	XM_011544132.2:c.	N/A	Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.876	G=0.124
1000Genomes	American	Sub	694	A=0.970	G=0.030
1000Genomes	East Asian	Sub	1008	A=0.959	G=0.041
1000Genomes	Europe	Sub	1006	A=0.970	G=0.030
1000Genomes	Global	Study-wide	5008	A=0.931	G=0.069
1000Genomes	South Asian	Sub	978	A=0.910	G=0.090
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.976	G=0.024
The Genome Aggregation Database	African	Sub	8716	A=0.881	G=0.119
The Genome Aggregation Database	American	Sub	836	A=0.960	G=0.040
The Genome Aggregation Database	East Asian	Sub	1618	A=0.952	G=0.048
The Genome Aggregation Database	Europe	Sub	18444	A=0.972	G=0.027
The Genome Aggregation Database	Global	Study-wide	29916	A=0.944	G=0.055
The Genome Aggregation Database	Other	Sub	302	A=0.930	G=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.932	G=0.067
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.974	G=0.026

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
rs6678986	0.000933	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:241684831	KMO	ENSG00000117009.7	A>G	5.7810e-4	-10603	Cortex

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	241681357	241681410	E068	-3421
chr1	241634968	241635018	E070	-49813
chr1	241639078	241639298	E071	-45533
chr1	241639416	241639599	E071	-45232
chr1	241681357	241681410	E071	-3421
chr1	241639078	241639298	E072	-45533
chr1	241639416	241639599	E072	-45232
chr1	241676805	241676855	E072	-7976
chr1	241681357	241681410	E073	-3421
chr1	241639078	241639298	E074	-45533
chr1	241681357	241681410	E074	-3421
chr1	241634968	241635018	E081	-49813

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	241681895	241683625	E067	-1206
chr1	241683785	241683840	E067	-991
chr1	241694577	241695472	E067	9746
chr1	241695473	241695787	E067	10642
chr1	241681895	241683625	E068	-1206
chr1	241683785	241683840	E068	-991
chr1	241694577	241695472	E068	9746
chr1	241695473	241695787	E068	10642
chr1	241681895	241683625	E069	-1206
chr1	241683785	241683840	E069	-991
chr1	241694577	241695472	E069	9746
chr1	241695473	241695787	E069	10642
chr1	241681895	241683625	E070	-1206
chr1	241683785	241683840	E070	-991
chr1	241694577	241695472	E070	9746
chr1	241695473	241695787	E070	10642
chr1	241681895	241683625	E071	-1206
chr1	241683785	241683840	E071	-991
chr1	241694577	241695472	E071	9746
chr1	241695473	241695787	E071	10642
chr1	241681895	241683625	E072	-1206
chr1	241683785	241683840	E072	-991
chr1	241694577	241695472	E072	9746
chr1	241695473	241695787	E072	10642
chr1	241681895	241683625	E073	-1206
chr1	241683785	241683840	E073	-991
chr1	241683889	241683941	E073	-890
chr1	241694577	241695472	E073	9746
chr1	241695473	241695787	E073	10642
chr1	241681895	241683625	E074	-1206
chr1	241694577	241695472	E074	9746
chr1	241695473	241695787	E074	10642
chr1	241681895	241683625	E081	-1206
chr1	241694577	241695472	E081	9746
chr1	241695473	241695787	E081	10642
chr1	241681895	241683625	E082	-1206
chr1	241683785	241683840	E082	-991
chr1	241683889	241683941	E082	-890
chr1	241694577	241695472	E082	9746
chr1	241695473	241695787	E082	10642

rs6678986