rs1993323

Homo sapiens
C>A
NYAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr2:225591745 (GRCh38.p7) (2q36.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.225591745C>A
GRCh37.p13 chr 2NC_000002.11:g.226456461C>A

Gene: NYAP2, neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NYAP2 transcriptNM_020864.1:c.N/AIntron Variant
NYAP2 transcript variant X3XM_005246708.3:c.N/AIntron Variant
NYAP2 transcript variant X1XM_011511524.1:c.N/AIntron Variant
NYAP2 transcript variant X2XM_017004564.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.704A=0.296
1000GenomesAmericanSub694C=0.320A=0.680
1000GenomesEast AsianSub1008C=0.474A=0.526
1000GenomesEuropeSub1006C=0.417A=0.583
1000GenomesGlobalStudy-wide5008C=0.471A=0.529
1000GenomesSouth AsianSub978C=0.310A=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.473A=0.527
The Genome Aggregation DatabaseAfricanSub8680C=0.667A=0.333
The Genome Aggregation DatabaseAmericanSub836C=0.320A=0.680
The Genome Aggregation DatabaseEast AsianSub1604C=0.475A=0.525
The Genome Aggregation DatabaseEuropeSub18454C=0.464A=0.535
The Genome Aggregation DatabaseGlobalStudy-wide29874C=0.520A=0.480
The Genome Aggregation DatabaseOtherSub300C=0.470A=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.537A=0.462
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.463A=0.537
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19933230.000289alcohol dependence20201924

eQTL of rs1993323 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1993323 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2226482509226482602E07026048
chr2226449693226449787E082-6674
chr2226450006226450185E082-6276