SNP Detail Info-rs10031299

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

PCAT4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0218 (6540/29894,GnomAD)
C=0237 (6912/29118,TOPMED)
C=0225 (1126/5008,1000G)
C=0148 (571/3854,ALSPAC)
C=0151 (559/3708,TWINSUK)

Position: chr4:79832638 (GRCh38.p7) (4q21.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.79832638T>C
GRCh37.p13 chr 4	NC_000004.11:g.80753792T>C

Molecule type	Change	Amino acid[Codon]	SO Term
PCAT4 transcript	NR_026555.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.617	C=0.383
1000Genomes	American	Sub	694	T=0.810	C=0.190
1000Genomes	East Asian	Sub	1008	T=0.712	C=0.288
1000Genomes	Europe	Sub	1006	T=0.860	C=0.140
1000Genomes	Global	Study-wide	5008	T=0.775	C=0.225
1000Genomes	South Asian	Sub	978	T=0.940	C=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.852	C=0.148
The Genome Aggregation Database	African	Sub	8688	T=0.646	C=0.354
The Genome Aggregation Database	American	Sub	838	T=0.750	C=0.250
The Genome Aggregation Database	East Asian	Sub	1612	T=0.679	C=0.321
The Genome Aggregation Database	Europe	Sub	18454	T=0.854	C=0.145
The Genome Aggregation Database	Global	Study-wide	29894	T=0.781	C=0.218
The Genome Aggregation Database	Other	Sub	302	T=0.810	C=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.762	C=0.237
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.849	C=0.151

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	80775174	80775230	E081	21382
chr4	80775386	80775692	E081	21594

rs10031299