SNP Detail Info-rs11933661

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0451 (13494/29916,GnomAD)
C==0408 (11884/29118,TOPMED)
C==0409 (2050/5008,1000G)
T=0468 (1803/3854,ALSPAC)
T=0450 (1670/3708,TWINSUK)

Position: chr4:130091985 (GRCh38.p7) (4q28.2)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.130091985C>T
GRCh37.p13 chr 4	NC_000004.11:g.131013140C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.172	T=0.828
1000Genomes	American	Sub	694	C=0.440	T=0.560
1000Genomes	East Asian	Sub	1008	C=0.363	T=0.637
1000Genomes	Europe	Sub	1006	C=0.552	T=0.448
1000Genomes	Global	Study-wide	5008	C=0.409	T=0.591
1000Genomes	South Asian	Sub	978	C=0.610	T=0.390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.532	T=0.468
The Genome Aggregation Database	African	Sub	8702	C=0.254	T=0.746
The Genome Aggregation Database	American	Sub	834	C=0.450	T=0.550
The Genome Aggregation Database	East Asian	Sub	1612	C=0.373	T=0.627
The Genome Aggregation Database	Europe	Sub	18466	C=0.549	T=0.450
The Genome Aggregation Database	Global	Study-wide	29916	C=0.451	T=0.548
The Genome Aggregation Database	Other	Sub	302	C=0.560	T=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.408	T=0.591
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.550	T=0.450

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	131032028	131032167	E067	18888
chr4	131020256	131020564	E068	7116
chr4	131008582	131008684	E081	-4456
chr4	131008889	131009244	E081	-3896

rs11933661