SNP Detail Info-rs8126935

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

NCAM2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0198 (5928/29920,GnomAD)
A==0207 (6037/29118,TOPMED)
A==0140 (702/5008,1000G)
A==0206 (795/3854,ALSPAC)
A==0200 (740/3708,TWINSUK)

Position: chr21:21315260 (GRCh38.p7) (21q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.21315260A>G
GRCh37.p13 chr 21	NC_000021.8:g.22687580A>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=0.221	G=0.779
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=0.222	G=0.778
1000Genomes	Global	Study-wide	5008	A=0.140	G=0.860
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=0.206	G=0.794
The Genome Aggregation Database	African	Sub	8710	A=0.206	G=0.794
The Genome Aggregation Database	American	Sub	838	A=0.160	G=0.840
The Genome Aggregation Database	East Asian	Sub	1616	A=0.004	G=0.996
The Genome Aggregation Database	Europe	Sub	18454	A=0.212	G=0.787
The Genome Aggregation Database	Global	Study-wide	29920	A=0.198	G=0.801
The Genome Aggregation Database	Other	Sub	302	A=0.240	G=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.207	G=0.792
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
rs8126935	7.53E-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	22640512	22640562	E068	-47018
chr21	22679396	22679436	E068	-8144
chr21	22640512	22640562	E069	-47018
chr21	22679396	22679436	E069	-8144
chr21	22704675	22704725	E069	17095
chr21	22679396	22679436	E071	-8144
chr21	22640512	22640562	E073	-47018
chr21	22642450	22642507	E074	-45073
chr21	22679396	22679436	E074	-8144
chr21	22710757	22710807	E074	23177

rs8126935