SNP Detail Info-rs1982266

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

MBL2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0494 (14791/29892,GnomAD)
G=0448 (13071/29118,TOPMED)
G=0477 (2391/5008,1000G)
A==0438 (1687/3854,ALSPAC)
A==0438 (1623/3708,TWINSUK)

Position: chr10:52770876 (GRCh38.p7) (10q21.1)

Phenotype: CD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 1 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
MBL2 transcript	NM_000242.2:c.	N/A	Intron Variant
MBL2 transcript variant X2	XM_006717861.3:c.	N/A	Intron Variant
MBL2 transcript variant X1	XM_011539816.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.785	G=0.215
1000Genomes	American	Sub	694	A=0.340	G=0.660
1000Genomes	East Asian	Sub	1008	A=0.394	G=0.606
1000Genomes	Europe	Sub	1006	A=0.419	G=0.581
1000Genomes	Global	Study-wide	5008	A=0.523	G=0.477
1000Genomes	South Asian	Sub	978	A=0.540	G=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.438	G=0.562
The Genome Aggregation Database	African	Sub	8706	A=0.723	G=0.277
The Genome Aggregation Database	American	Sub	830	A=0.320	G=0.680
The Genome Aggregation Database	East Asian	Sub	1616	A=0.356	G=0.644
The Genome Aggregation Database	Europe	Sub	18442	A=0.425	G=0.574
The Genome Aggregation Database	Global	Study-wide	29892	A=0.505	G=0.494
The Genome Aggregation Database	Other	Sub	298	A=0.440	G=0.560
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.551	G=0.448
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.438	G=0.562

PMID	Title	Author	Journal
27390651	A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene.	Kalia N	Springerplus
18396467	Genetic variation and haplotype structures of innate immunity genes in eastern India.	Bairagya BB	Infect Genet Evol
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs1982266	0.000609	cocaine dependence	23958962

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

rs1982266