SNP Detail Info-rs548172

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0159 (4780/29918,GnomAD)
C=0132 (3849/29118,TOPMED)
C=0162 (809/5008,1000G)
C=0183 (705/3854,ALSPAC)
C=0188 (698/3708,TWINSUK)

Position: chr4:134765322 (GRCh38.p7) (4q28.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.134765322T>C
GRCh37.p13 chr 4	NC_000004.11:g.135686477T>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.902	C=0.098
1000Genomes	American	Sub	694	T=0.920	C=0.080
1000Genomes	East Asian	Sub	1008	T=0.812	C=0.188
1000Genomes	Europe	Sub	1006	T=0.819	C=0.181
1000Genomes	Global	Study-wide	5008	T=0.838	C=0.162
1000Genomes	South Asian	Sub	978	T=0.740	C=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.817	C=0.183
The Genome Aggregation Database	African	Sub	8724	T=0.899	C=0.101
The Genome Aggregation Database	American	Sub	830	T=0.910	C=0.090
The Genome Aggregation Database	East Asian	Sub	1616	T=0.832	C=0.168
The Genome Aggregation Database	Europe	Sub	18446	T=0.811	C=0.188
The Genome Aggregation Database	Global	Study-wide	29918	T=0.840	C=0.159
The Genome Aggregation Database	Other	Sub	302	T=0.770	C=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.867	C=0.132
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.812	C=0.188

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	135638568	135638990	E081	-47487
chr4	135675404	135676126	E081	-10351
chr4	135675404	135676126	E082	-10351

rs548172