rs4984530

Homo sapiens
T>C
NR2F2-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0430 (12882/29946,GnomAD)
C=0470 (13703/29118,TOPMED)
C=0448 (2243/5008,1000G)
C=0441 (1700/3854,ALSPAC)
C=0427 (1585/3708,TWINSUK)
chr15:96263187 (GRCh38.p7) (15q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.96263187T>C
GRCh37.p13 chr 15NC_000015.9:g.96806416T>C

Gene: NR2F2-AS1, NR2F2 antisense RNA 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NR2F2-AS1 transcript variant 3NR_125738.1:n.N/AIntron Variant
NR2F2-AS1 transcript variant 1NR_102743.1:n.N/AGenic Downstream Transcript Variant
NR2F2-AS1 transcript variant 2NR_102744.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.459C=0.541
1000GenomesAmericanSub694T=0.560C=0.440
1000GenomesEast AsianSub1008T=0.660C=0.340
1000GenomesEuropeSub1006T=0.562C=0.438
1000GenomesGlobalStudy-wide5008T=0.552C=0.448
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.559C=0.441
The Genome Aggregation DatabaseAfricanSub8720T=0.469C=0.531
The Genome Aggregation DatabaseAmericanSub838T=0.580C=0.420
The Genome Aggregation DatabaseEast AsianSub1618T=0.706C=0.294
The Genome Aggregation DatabaseEuropeSub18468T=0.605C=0.394
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.569C=0.430
The Genome Aggregation DatabaseOtherSub302T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.529C=0.470
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.573C=0.427
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs49845306.37E-05alcohol consumption23743675

eQTL of rs4984530 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 rs4984530 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.