SNP Detail Info-rs4750099

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

ECHDC3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0158 (4725/29886,GnomAD)
T=0193 (966/5008,1000G)
T=0204 (785/3854,ALSPAC)
T=0206 (763/3708,TWINSUK)

Position: chr10:11753576 (GRCh38.p7) (10p14)

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
ECHDC3 transcript	NM_024693.4:c.	N/A	Intron Variant
ECHDC3 transcript variant X1	XM_011519689.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.980	T=0.020
1000Genomes	American	Sub	694	G=0.790	T=0.210
1000Genomes	East Asian	Sub	1008	G=0.691	T=0.309
1000Genomes	Europe	Sub	1006	G=0.789	T=0.211
1000Genomes	Global	Study-wide	5008	G=0.807	T=0.193
1000Genomes	South Asian	Sub	978	G=0.720	T=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.796	T=0.204
The Genome Aggregation Database	African	Sub	8714	G=0.954	T=0.046
The Genome Aggregation Database	American	Sub	832	G=0.770	T=0.230
The Genome Aggregation Database	East Asian	Sub	1612	G=0.699	T=0.301
The Genome Aggregation Database	Europe	Sub	18428	G=0.805	T=0.194
The Genome Aggregation Database	Global	Study-wide	29886	G=0.841	T=0.158
The Genome Aggregation Database	Other	Sub	300	G=0.820	T=0.180
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.794	T=0.206

rs4750099