SNP Detail Info-rs312312

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC105377698 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0316 (9476/29902,GnomAD)
A==0385 (11235/29118,TOPMED)
A==0286 (1432/5008,1000G)
A==0241 (929/3854,ALSPAC)
A==0240 (889/3708,TWINSUK)

Position: chr5:162633359 (GRCh38.p7) (5q34)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.162633359A>G
GRCh37.p13 chr 5	NC_000005.9:g.162060365A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377698 transcript variant X1	XR_001742958.1:n.	N/A	Intron Variant
LOC105377698 transcript variant X2	XR_941160.2:n.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.575	G=0.425
1000Genomes	American	Sub	694	A=0.340	G=0.660
1000Genomes	East Asian	Sub	1008	A=0.079	G=0.921
1000Genomes	Europe	Sub	1006	A=0.250	G=0.750
1000Genomes	Global	Study-wide	5008	A=0.286	G=0.714
1000Genomes	South Asian	Sub	978	A=0.110	G=0.890
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.241	G=0.759
The Genome Aggregation Database	African	Sub	8694	A=0.537	G=0.463
The Genome Aggregation Database	American	Sub	834	A=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1616	A=0.095	G=0.905
The Genome Aggregation Database	Europe	Sub	18456	A=0.234	G=0.765
The Genome Aggregation Database	Global	Study-wide	29902	A=0.316	G=0.683
The Genome Aggregation Database	Other	Sub	302	A=0.230	G=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.385	G=0.614
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.240	G=0.760

rs312312