rs13421680

Homo sapiens
A>G
ERBB4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0356 (10657/29894,GnomAD)
G=0420 (12242/29118,TOPMED)
G=0365 (1830/5008,1000G)
G=0254 (978/3854,ALSPAC)
G=0245 (907/3708,TWINSUK)
chr2:211551304 (GRCh38.p7) (2q34)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.211551304A>G
GRCh37.p13 chr 2NC_000002.11:g.212416029A>G
ERBB4 RefSeqGeneNG_011805.1:g.992324T>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=0.298G=0.702
1000GenomesAmericanSub694A=0.760G=0.240
1000GenomesEast AsianSub1008A=0.808G=0.192
1000GenomesEuropeSub1006A=0.762G=0.238
1000GenomesGlobalStudy-wide5008A=0.635G=0.365
1000GenomesSouth AsianSub978A=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.746G=0.254
The Genome Aggregation DatabaseAfricanSub8666A=0.363G=0.637
The Genome Aggregation DatabaseAmericanSub836A=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1618A=0.790G=0.210
The Genome Aggregation DatabaseEuropeSub18472A=0.755G=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.643G=0.356
The Genome Aggregation DatabaseOtherSub302A=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.579G=0.420
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.755G=0.245
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
rs134216800.000442alcohol dependence21314694

eQTL of rs13421680 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 rs13421680 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 )
chr2212399397212399669E068-16360
chr2212399397212399669E069-16360
chr2212399397212399669E070-16360
chr2212374449212374745E071-41284
chr2212377536212377805E071-38224
chr2212374449212374745E074-41284
chr2212398804212398904E074-17125
chr2212399397212399669E074-16360
chr2212399397212399669E081-16360