SNP Detail Info-rs17237639

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

LOC105374658 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0288 (8604/29838,GnomAD)
G=0287 (8360/29118,TOPMED)
G=0274 (1374/5008,1000G)
G=0388 (1496/3854,ALSPAC)
G=0377 (1398/3708,TWINSUK)

Position: chr5:12975822 (GRCh38.p7) (5p15.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374658 transcript variant X3	XR_001742602.1:n.	N/A	Intron Variant
LOC105374658 transcript variant X1	XR_925796.2:n.	N/A	Intron Variant
LOC105374658 transcript variant X2	XR_925797.2:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.880	G=0.120
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.757	G=0.243
1000Genomes	Europe	Sub	1006	A=0.652	G=0.348
1000Genomes	Global	Study-wide	5008	A=0.726	G=0.274
1000Genomes	South Asian	Sub	978	A=0.660	G=0.340
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.612	G=0.388
The Genome Aggregation Database	African	Sub	8704	A=0.845	G=0.155
The Genome Aggregation Database	American	Sub	838	A=0.600	G=0.40,
The Genome Aggregation Database	East Asian	Sub	1606	A=0.758	G=0.242
The Genome Aggregation Database	Europe	Sub	18388	A=0.651	G=0.349
The Genome Aggregation Database	Global	Study-wide	29838	A=0.711	G=0.288
The Genome Aggregation Database	Other	Sub	302	A=0.620	G=0.38,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.712	G=0.287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.623	G=0.377

rs17237639