rs11885579

Homo sapiens
A>G
ERBB4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0315 (9433/29880,GnomAD)
G=0376 (10966/29118,TOPMED)
G=0279 (1398/5008,1000G)
chr2:211566804 (GRCh38.p7) (2q34)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.211566804A>G
GRCh37.p13 chr 2NC_000002.11:g.212431529A>G
ERBB4 RefSeqGeneNG_011805.1:g.976824T>C

Gene: ERBB4, erb-b2 receptor tyrosine kinase 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ERBB4 transcript variant JM-a/CVT-2NM_001042599.1:c.N/AIntron Variant
ERBB4 transcript variant JM-a/CVT-1NM_005235.2:c.N/AIntron Variant
ERBB4 transcript variant X7XM_005246376.2:c.N/AIntron Variant
ERBB4 transcript variant X8XM_005246377.2:c.N/AIntron Variant
ERBB4 transcript variant X5XM_006712364.2:c.N/AIntron Variant
ERBB4 transcript variant X1XM_017003577.1:c.N/AIntron Variant
ERBB4 transcript variant X2XM_017003578.1:c.N/AIntron Variant
ERBB4 transcript variant X3XM_017003579.1:c.N/AIntron Variant
ERBB4 transcript variant X4XM_017003580.1:c.N/AIntron Variant
ERBB4 transcript variant X6XM_017003581.1:c.N/AIntron Variant
ERBB4 transcript variant X9XM_017003582.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.364G=0.636
1000GenomesAmericanSub694A=0.860G=0.140
1000GenomesEast AsianSub1008A=0.939G=0.061
1000GenomesEuropeSub1006A=0.795G=0.205
1000GenomesGlobalStudy-wide5008A=0.721G=0.279
1000GenomesSouth AsianSub978A=0.800G=0.200
The Genome Aggregation DatabaseAfricanSub8694A=0.418G=0.582
The Genome Aggregation DatabaseAmericanSub830A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1616A=0.947G=0.053
The Genome Aggregation DatabaseEuropeSub18438A=0.777G=0.222
The Genome Aggregation DatabaseGlobalStudy-wide29880A=0.684G=0.315
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.623G=0.376
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

P-Value

SNP ID p-value Traits Study
rs118855790.000938alcohol dependence21314694

eQTL of rs11885579 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 rs11885579 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 )
chr2212399397212399669E068-31860
chr2212399397212399669E069-31860
chr2212399397212399669E070-31860
chr2212398804212398904E074-32625
chr2212399397212399669E074-31860
chr2212399397212399669E081-31860