SNP Detail Info-rs7279496

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

NCAM2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0171 (5135/29936,GnomAD)
C==0163 (4754/29118,TOPMED)
C==0107 (536/5008,1000G)
C==0206 (795/3854,ALSPAC)
C==0200 (742/3708,TWINSUK)

Position: chr21:21307316 (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.21307316C>A
GRCh37.p13 chr 21	NC_000021.8:g.22679636C>A

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	C=0.101	A=0.899
1000Genomes	American	Sub	694	C=0.140	A=0.860
1000Genomes	East Asian	Sub	1008	C=0.007	A=0.993
1000Genomes	Europe	Sub	1006	C=0.221	A=0.779
1000Genomes	Global	Study-wide	5008	C=0.107	A=0.893
1000Genomes	South Asian	Sub	978	C=0.080	A=0.920
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.206	A=0.794
The Genome Aggregation Database	African	Sub	8732	C=0.114	A=0.886
The Genome Aggregation Database	American	Sub	838	C=0.150	A=0.850
The Genome Aggregation Database	East Asian	Sub	1610	C=0.004	A=0.996
The Genome Aggregation Database	Europe	Sub	18454	C=0.213	A=0.786
The Genome Aggregation Database	Global	Study-wide	29936	C=0.171	A=0.828
The Genome Aggregation Database	Other	Sub	302	C=0.240	A=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.163	A=0.836
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.200	A=0.800

PMID	Title	Author	Journal

SNP ID	p-value	Traits	Study
rs7279496	8.95E-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	-39074
chr21	22679396	22679436	E068	-200
chr21	22640512	22640562	E069	-39074
chr21	22679396	22679436	E069	-200
chr21	22704675	22704725	E069	25039
chr21	22679396	22679436	E071	-200
chr21	22640512	22640562	E073	-39074
chr21	22642450	22642507	E074	-37129
chr21	22679396	22679436	E074	-200
chr21	22710757	22710807	E074	31121

rs7279496