rs11087653

Homo sapiens
G>A / G>T
PRNP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0016 (482/29980,GnomAD)
A=0024 (725/29118,TOPMED)
A=0017 (84/5008,1000G)
chr20:4698873 (GRCh38.p7) (20p13)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.4698873G>A
GRCh38.p7 chr 20NC_000020.11:g.4698873G>T
GRCh37.p13 chr 20NC_000020.10:g.4679519G>A
GRCh37.p13 chr 20NC_000020.10:g.4679519G>T
PRNP RefSeqGeneNG_009087.1:g.17723G>A
PRNP RefSeqGeneNG_009087.1:g.17723G>T

Gene: PRNP, prion protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRNP transcript variant 1NM_000311.3:c.N/AIntron Variant
PRNP transcript variant 3NM_001080121.1:c.N/AIntron Variant
PRNP transcript variant 4NM_001080122.1:c.N/AIntron Variant
PRNP transcript variant 5NM_001080123.1:c.N/AIntron Variant
PRNP transcript variant 6NM_001271561.1:c.N/AIntron Variant
PRNP transcript variant 2NM_183079.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.939A=0.061
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.983A=0.017
1000GenomesSouth AsianSub978G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8726G=0.946T=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.990T=0.00,
The Genome Aggregation DatabaseEast AsianSub1620G=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18494G=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29980G=0.983T=0.000
The Genome Aggregation DatabaseOtherSub302G=1.000T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.975A=0.024
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
21686668De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.Cannella MBMJ Case Rep

P-Value

SNP ID p-value Traits Study
rs110876530.00077alcohol dependence21314694

eQTL of rs11087653 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 rs11087653 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 )
chr206101305561013318E071-22480
chr206107450061076008E08138702
chr206107611261076162E08140314
chr206107618761076300E08140389