SNP Detail Info-rs2218433

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

NCAM2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0186 (5571/29922,GnomAD)
A==0187 (5445/29118,TOPMED)
A==0122 (613/5008,1000G)
A==0207 (796/3854,ALSPAC)
A==0200 (742/3708,TWINSUK)

Position: chr21:21305454 (GRCh38.p7) (21q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.21305454A>G
GRCh37.p13 chr 21	NC_000021.8:g.22677774A>G

Molecule type	Change	Amino acid[Codon]	SO Term
NCAM2 transcript	NM_004540.3:c.	N/A	Intron Variant
NCAM2 transcript variant X1	XM_011529575.2:c.	N/A	Intron Variant
NCAM2 transcript variant X2	XM_011529576.2:c.	N/A	Intron Variant
NCAM2 transcript variant X4	XM_011529579.2:c.	N/A	Intron Variant
NCAM2 transcript variant X5	XM_011529580.2:c.	N/A	Intron Variant
NCAM2 transcript variant X6	XM_011529581.2:c.	N/A	Intron Variant
NCAM2 transcript variant X8	XM_011529582.2:c.	N/A	Intron Variant
NCAM2 transcript variant X11	XM_011529585.2:c.	N/A	Intron Variant
NCAM2 transcript variant X3	XM_017028353.1:c.	N/A	Intron Variant
NCAM2 transcript variant X7	XM_017028354.1:c.	N/A	Intron Variant
NCAM2 transcript variant X9	XM_017028355.1:c.	N/A	Intron Variant
NCAM2 transcript variant X10	XM_017028356.1:c.	N/A	Intron Variant
NCAM2 transcript variant X12	XM_017028357.1:c.	N/A	Intron Variant
NCAM2 transcript variant X13	XM_017028358.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.158	G=0.842
1000Genomes	American	Sub	694	A=0.140	G=0.860
1000Genomes	East Asian	Sub	1008	A=0.007	G=0.993
1000Genomes	Europe	Sub	1006	A=0.221	G=0.779
1000Genomes	Global	Study-wide	5008	A=0.122	G=0.878
1000Genomes	South Asian	Sub	978	A=0.080	G=0.920
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.207	G=0.793
The Genome Aggregation Database	African	Sub	8722	A=0.164	G=0.836
The Genome Aggregation Database	American	Sub	836	A=0.160	G=0.840
The Genome Aggregation Database	East Asian	Sub	1604	A=0.004	G=0.996
The Genome Aggregation Database	Europe	Sub	18458	A=0.212	G=0.787
The Genome Aggregation Database	Global	Study-wide	29922	A=0.186	G=0.813
The Genome Aggregation Database	Other	Sub	302	A=0.240	G=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.187	G=0.813
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.200	G=0.800

PMID	Title	Author	Journal

SNP ID	p-value	Traits	Study
rs2218433	6.96E-05	alcoholism	pha002893

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 )
chr21	22629346	22629397	E068	-48377
chr21	22640512	22640562	E068	-37212
chr21	22679396	22679436	E068	1622
chr21	22629346	22629397	E069	-48377
chr21	22640512	22640562	E069	-37212
chr21	22679396	22679436	E069	1622
chr21	22704675	22704725	E069	26901
chr21	22629346	22629397	E071	-48377
chr21	22679396	22679436	E071	1622
chr21	22640512	22640562	E073	-37212
chr21	22629346	22629397	E074	-48377
chr21	22642450	22642507	E074	-35267
chr21	22679396	22679436	E074	1622
chr21	22710757	22710807	E074	32983

rs2218433