SNP Detail Info-rs9614466

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

RIBC2 : Intron Variant
SMC1B : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0134 (4011/29774,GnomAD)
G=0150 (4376/29114,TOPMED)
G=0139 (694/5008,1000G)
G=0152 (584/3854,ALSPAC)
G=0144 (533/3708,TWINSUK)

Position: chr22:45415482 (GRCh38.p7) (22q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 34 Enhancers around

Promoter: 9 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 22	NC_000022.11:g.45415482A>G
GRCh37.p13 chr 22	NC_000022.10:g.45811362A>G

Molecule type	Change	Amino acid[Codon]	SO Term
RIBC2 transcript	NM_015653.4:c.	N/A	Intron Variant
RIBC2 transcript variant X1	XM_005261524.4:c.	N/A	Intron Variant
RIBC2 transcript variant X3	XM_017028766.1:c.	N/A	Intron Variant
RIBC2 transcript variant X2	XM_011530126.2:c.	N/A	Genic Upstream Transcript Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SMC1B transcript variant 2	NM_001291501.1:c.	N/A	Upstream Transcript Variant
SMC1B transcript variant 1	NM_148674.4:c.	N/A	Upstream Transcript Variant
SMC1B transcript variant X3	XM_011530145.2:c.	N/A	Upstream Transcript Variant
SMC1B transcript variant X1	XM_011530144.2:c.	N/A	N/A
SMC1B transcript variant X2	XR_244368.4:n.	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=0.830	G=0.170
1000Genomes	East Asian	Sub	1008	A=0.840	G=0.160
1000Genomes	Europe	Sub	1006	A=0.861	G=0.139
1000Genomes	Global	Study-wide	5008	A=0.861	G=0.139
1000Genomes	South Asian	Sub	978	A=0.880	G=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.848	G=0.152
The Genome Aggregation Database	African	Sub	8700	A=0.859	G=0.141
The Genome Aggregation Database	American	Sub	824	A=0.820	G=0.180
The Genome Aggregation Database	East Asian	Sub	1612	A=0.861	G=0.139
The Genome Aggregation Database	Europe	Sub	18338	A=0.871	G=0.128
The Genome Aggregation Database	Global	Study-wide	29774	A=0.865	G=0.134
The Genome Aggregation Database	Other	Sub	300	A=0.810	G=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29114	A=0.849	G=0.150
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.856	G=0.144

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs9614466	0.0001	alcohol dependence	20201924

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 )
chr22	45830663	45830713	E067	19301
chr22	45830742	45830838	E067	19380
chr22	45830978	45831220	E067	19616
chr22	45831223	45832080	E067	19861
chr22	45817611	45817892	E068	6249
chr22	45830742	45830838	E068	19380
chr22	45830978	45831220	E068	19616
chr22	45831223	45832080	E068	19861
chr22	45831223	45832080	E069	19861
chr22	45795651	45795902	E070	-15460
chr22	45795945	45796266	E070	-15096
chr22	45830742	45830838	E071	19380
chr22	45830978	45831220	E071	19616
chr22	45831223	45832080	E071	19861
chr22	45830345	45830510	E072	18983
chr22	45830663	45830713	E072	19301
chr22	45830742	45830838	E072	19380
chr22	45830978	45831220	E072	19616
chr22	45831223	45832080	E072	19861
chr22	45831223	45832080	E073	19861
chr22	45831223	45832080	E074	19861
chr22	45828351	45828723	E081	16989
chr22	45828751	45828864	E081	17389
chr22	45829565	45829629	E081	18203
chr22	45829709	45829860	E081	18347
chr22	45829987	45830067	E081	18625
chr22	45831223	45832080	E081	19861
chr22	45828351	45828723	E082	16989
chr22	45828751	45828864	E082	17389
chr22	45829565	45829629	E082	18203
chr22	45829709	45829860	E082	18347
chr22	45829987	45830067	E082	18625
chr22	45831223	45832080	E082	19861
chr22	45836903	45837467	E082	25541

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr22	45809291	45810202	E067	-1160
chr22	45809291	45810202	E068	-1160
chr22	45809291	45810202	E069	-1160
chr22	45809291	45810202	E070	-1160
chr22	45809291	45810202	E071	-1160
chr22	45809291	45810202	E072	-1160
chr22	45809291	45810202	E073	-1160
chr22	45809291	45810202	E074	-1160
chr22	45809291	45810202	E082	-1160

rs9614466