SNP Detail Info-rs2188565

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CBLL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0253 (7577/29904,GnomAD)
G==0259 (7566/29118,TOPMED)
G==0189 (947/5008,1000G)
G==0295 (1137/3854,ALSPAC)
G==0298 (1104/3708,TWINSUK)

Position: chr7:107750624 (GRCh38.p7) (7q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107750624G>A
GRCh37.p13 chr 7	NC_000007.13:g.107391069G>A

Molecule type	Change	Amino acid[Codon]	SO Term
CBLL1 transcript variant 3	NM_001284291.1:c.	N/A	Intron Variant
CBLL1 transcript variant 1	NM_024814.3:c.	N/A	Intron Variant
CBLL1 transcript variant 2	NR_024199.2:n.	N/A	Intron Variant
CBLL1 transcript variant X3	XM_011516580.2:c.	N/A	Intron Variant
CBLL1 transcript variant X1	XM_017012643.1:c.	N/A	Intron Variant
CBLL1 transcript variant X6	XM_017012644.1:c.	N/A	Intron Variant
CBLL1 transcript variant X8	XM_017012645.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.247	A=0.753
1000Genomes	American	Sub	694	G=0.230	A=0.770
1000Genomes	East Asian	Sub	1008	G=0.017	A=0.983
1000Genomes	Europe	Sub	1006	G=0.304	A=0.696
1000Genomes	Global	Study-wide	5008	G=0.189	A=0.811
1000Genomes	South Asian	Sub	978	G=0.140	A=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.295	A=0.705
The Genome Aggregation Database	African	Sub	8698	G=0.252	A=0.748
The Genome Aggregation Database	American	Sub	838	G=0.170	A=0.830
The Genome Aggregation Database	East Asian	Sub	1622	G=0.011	A=0.989
The Genome Aggregation Database	Europe	Sub	18446	G=0.278	A=0.721
The Genome Aggregation Database	Global	Study-wide	29904	G=0.253	A=0.746
The Genome Aggregation Database	Other	Sub	300	G=0.300	A=0.700
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.259	A=0.740
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.298	A=0.702

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs2188565	4.99E-05	alcohol consumption	23743675

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 )
chr7	107383023	107383099	E067	-7970
chr7	107386669	107386772	E067	-4297
chr7	107387624	107387709	E067	-3360
chr7	107387798	107387880	E067	-3189
chr7	107341168	107341256	E068	-49813
chr7	107341276	107341497	E068	-49572
chr7	107382753	107382818	E068	-8251
chr7	107386669	107386772	E068	-4297
chr7	107387624	107387709	E068	-3360
chr7	107387798	107387880	E068	-3189
chr7	107387932	107387978	E068	-3091
chr7	107388350	107388400	E068	-2669
chr7	107383023	107383099	E069	-7970
chr7	107386669	107386772	E069	-4297
chr7	107387624	107387709	E069	-3360
chr7	107387798	107387880	E069	-3189
chr7	107387932	107387978	E069	-3091
chr7	107383023	107383099	E070	-7970
chr7	107386669	107386772	E070	-4297
chr7	107387798	107387880	E070	-3189
chr7	107387932	107387978	E070	-3091
chr7	107388350	107388400	E070	-2669
chr7	107383023	107383099	E071	-7970
chr7	107383023	107383099	E072	-7970
chr7	107386669	107386772	E072	-4297
chr7	107386669	107386772	E082	-4297
chr7	107387798	107387880	E082	-3189
chr7	107387932	107387978	E082	-3091
chr7	107388350	107388400	E082	-2669

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	-5544
chr7	107383118	107385525	E068	-5544
chr7	107383118	107385525	E069	-5544
chr7	107383118	107385525	E070	-5544
chr7	107383118	107385525	E071	-5544
chr7	107383118	107385525	E072	-5544
chr7	107383118	107385525	E073	-5544
chr7	107383118	107385525	E074	-5544
chr7	107383118	107385525	E081	-5544
chr7	107383118	107385525	E082	-5544

rs2188565