SNP Detail Info-rs10280767

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

CBLL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0271 (8106/29914,GnomAD)
C==0288 (8389/29118,TOPMED)
C==0208 (1043/5008,1000G)
C==0296 (1139/3854,ALSPAC)
C==0299 (1107/3708,TWINSUK)

Position: chr7:107752975 (GRCh38.p7) (7q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 27 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107752975C>A
GRCh37.p13 chr 7	NC_000007.13:g.107393420C>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	C=0.314	A=0.686
1000Genomes	American	Sub	694	C=0.230	A=0.770
1000Genomes	East Asian	Sub	1008	C=0.017	A=0.983
1000Genomes	Europe	Sub	1006	C=0.306	A=0.694
1000Genomes	Global	Study-wide	5008	C=0.208	A=0.792
1000Genomes	South Asian	Sub	978	C=0.140	A=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.296	A=0.704
The Genome Aggregation Database	African	Sub	8696	C=0.311	A=0.689
The Genome Aggregation Database	American	Sub	834	C=0.180	A=0.820
The Genome Aggregation Database	East Asian	Sub	1618	C=0.011	A=0.989
The Genome Aggregation Database	Europe	Sub	18464	C=0.278	A=0.721
The Genome Aggregation Database	Global	Study-wide	29914	C=0.271	A=0.729
The Genome Aggregation Database	Other	Sub	302	C=0.300	A=0.700
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.288	A=0.711
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.299	A=0.701

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
rs10280767	4.6E-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	-10321
chr7	107386669	107386772	E067	-6648
chr7	107387624	107387709	E067	-5711
chr7	107387798	107387880	E067	-5540
chr7	107382753	107382818	E068	-10602
chr7	107386669	107386772	E068	-6648
chr7	107387624	107387709	E068	-5711
chr7	107387798	107387880	E068	-5540
chr7	107387932	107387978	E068	-5442
chr7	107388350	107388400	E068	-5020
chr7	107383023	107383099	E069	-10321
chr7	107386669	107386772	E069	-6648
chr7	107387624	107387709	E069	-5711
chr7	107387798	107387880	E069	-5540
chr7	107387932	107387978	E069	-5442
chr7	107383023	107383099	E070	-10321
chr7	107386669	107386772	E070	-6648
chr7	107387798	107387880	E070	-5540
chr7	107387932	107387978	E070	-5442
chr7	107388350	107388400	E070	-5020
chr7	107383023	107383099	E071	-10321
chr7	107383023	107383099	E072	-10321
chr7	107386669	107386772	E072	-6648
chr7	107386669	107386772	E082	-6648
chr7	107387798	107387880	E082	-5540
chr7	107387932	107387978	E082	-5442
chr7	107388350	107388400	E082	-5020

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	-7895
chr7	107383118	107385525	E068	-7895
chr7	107383118	107385525	E069	-7895
chr7	107383118	107385525	E070	-7895
chr7	107383118	107385525	E071	-7895
chr7	107383118	107385525	E072	-7895
chr7	107383118	107385525	E073	-7895
chr7	107383118	107385525	E074	-7895
chr7	107383118	107385525	E081	-7895
chr7	107383118	107385525	E082	-7895

rs10280767