SNP Detail Info-rs1993323

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

NYAP2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0480 (14341/29874,GnomAD)
A=0462 (13467/29118,TOPMED)
C==0471 (2359/5008,1000G)
C==0473 (1822/3854,ALSPAC)
C==0463 (1718/3708,TWINSUK)

Position: chr2:225591745 (GRCh38.p7) (2q36.3)

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 2	NC_000002.12:g.225591745C>A
GRCh37.p13 chr 2	NC_000002.11:g.226456461C>A

Molecule type	Change	Amino acid[Codon]	SO Term
NYAP2 transcript	NM_020864.1:c.	N/A	Intron Variant
NYAP2 transcript variant X3	XM_005246708.3:c.	N/A	Intron Variant
NYAP2 transcript variant X1	XM_011511524.1:c.	N/A	Intron Variant
NYAP2 transcript variant X2	XM_017004564.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.704	A=0.296
1000Genomes	American	Sub	694	C=0.320	A=0.680
1000Genomes	East Asian	Sub	1008	C=0.474	A=0.526
1000Genomes	Europe	Sub	1006	C=0.417	A=0.583
1000Genomes	Global	Study-wide	5008	C=0.471	A=0.529
1000Genomes	South Asian	Sub	978	C=0.310	A=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.473	A=0.527
The Genome Aggregation Database	African	Sub	8680	C=0.667	A=0.333
The Genome Aggregation Database	American	Sub	836	C=0.320	A=0.680
The Genome Aggregation Database	East Asian	Sub	1604	C=0.475	A=0.525
The Genome Aggregation Database	Europe	Sub	18454	C=0.464	A=0.535
The Genome Aggregation Database	Global	Study-wide	29874	C=0.520	A=0.480
The Genome Aggregation Database	Other	Sub	300	C=0.470	A=0.530
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.537	A=0.462
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.463	A=0.537

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	226482509	226482602	E070	26048
chr2	226449693	226449787	E082	-6674
chr2	226450006	226450185	E082	-6276

rs1993323