rs929853

Homo sapiens
G>A
CNTNAP4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0337 (10086/29882,GnomAD)
A=0348 (10134/29118,TOPMED)
A=0249 (1247/5008,1000G)
A=0366 (1409/3854,ALSPAC)
A=0359 (1331/3708,TWINSUK)
chr16:76300776 (GRCh38.p7) (16q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
94 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.76300776G>A
GRCh37.p13 chr 16NC_000016.9:g.76334673G>A

Gene: CNTNAP4, contactin associated protein like 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CNTNAP4 transcript variant 4NM_001322178.1:c.N/AIntron Variant
CNTNAP4 transcript variant 5NM_001322179.1:c.N/AIntron Variant
CNTNAP4 transcript variant 6NM_001322180.1:c.N/AIntron Variant
CNTNAP4 transcript variant 8NM_001322181.1:c.N/AIntron Variant
CNTNAP4 transcript variant 9NM_001322187.1:c.N/AIntron Variant
CNTNAP4 transcript variant 10NM_001322188.1:c.N/AIntron Variant
CNTNAP4 transcript variant 11NM_001322189.1:c.N/AIntron Variant
CNTNAP4 transcript variant 12NM_001322190.1:c.N/AIntron Variant
CNTNAP4 transcript variant 13NM_001322191.1:c.N/AIntron Variant
CNTNAP4 transcript variant 1NM_033401.4:c.N/AIntron Variant
CNTNAP4 transcript variant 2NM_138994.4:c.N/AGenic Upstream Transcript Variant
CNTNAP4 transcript variant 3NR_136210.1:n.N/AIntron Variant
CNTNAP4 transcript variant 7NR_136213.1:n.N/AIntron Variant
CNTNAP4 transcript variant 14NR_136216.1:n.N/AIntron Variant
CNTNAP4 transcript variant X2XM_017023805.1:c.N/AIntron Variant
CNTNAP4 transcript variant X1XM_011523403.2:c.N/AGenic Upstream Transcript Variant
CNTNAP4 transcript variant X3XR_001752013.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.620A=0.380
1000GenomesAmericanSub694G=0.750A=0.250
1000GenomesEast AsianSub1008G=0.986A=0.014
1000GenomesEuropeSub1006G=0.622A=0.378
1000GenomesGlobalStudy-wide5008G=0.751A=0.249
1000GenomesSouth AsianSub978G=0.820A=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.634A=0.366
The Genome Aggregation DatabaseAfricanSub8702G=0.620A=0.380
The Genome Aggregation DatabaseAmericanSub836G=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1608G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18436G=0.646A=0.353
The Genome Aggregation DatabaseGlobalStudy-wide29882G=0.662A=0.337
The Genome Aggregation DatabaseOtherSub300G=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.652A=0.348
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.641A=0.359
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
rs9298530.00058alcohol dependence21314694

eQTL of rs929853 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 rs929853 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 )
chr167630995576310011E067-24662
chr167631029276310369E067-24304
chr167632638776326437E067-8236
chr167632913376329186E067-5487
chr167636923076369336E06734557
chr167636940376369918E06734730
chr167637395376374045E06739280
chr167632913376329186E068-5487
chr167636870876368943E06834035
chr167636894876368998E06834275
chr167636923076369336E06834557
chr167636940376369918E06834730
chr167631029276310369E069-24304
chr167632601376326063E069-8610
chr167632610576326165E069-8508
chr167632631476326364E069-8309
chr167632638776326437E069-8236
chr167636870876368943E06934035
chr167636894876368998E06934275
chr167636923076369336E06934557
chr167636940376369918E06934730
chr167637681276377078E06942139
chr167637727876377381E06942605
chr167631029276310369E070-24304
chr167637727876377381E07042605
chr167631029276310369E071-24304
chr167631874176318805E071-15868
chr167632548476325607E071-9066
chr167632567376325906E071-8767
chr167632601376326063E071-8610
chr167632610576326165E071-8508
chr167632631476326364E071-8309
chr167632638776326437E071-8236
chr167632804076328107E071-6566
chr167632913376329186E071-5487
chr167633586276335912E0711189
chr167633593076335980E0711257
chr167633812976338354E0713456
chr167636870876368943E07134035
chr167636894876368998E07134275
chr167636923076369336E07134557
chr167636940376369918E07134730
chr167630995576310011E072-24662
chr167631029276310369E072-24304
chr167632548476325607E072-9066
chr167632567376325906E072-8767
chr167632601376326063E072-8610
chr167632610576326165E072-8508
chr167632631476326364E072-8309
chr167632638776326437E072-8236
chr167633672576336939E0722052
chr167633708376337146E0722410
chr167634028276340344E0725609
chr167634179576341835E0727122
chr167636870876368943E07234035
chr167636894876368998E07234275
chr167636923076369336E07234557
chr167636940376369918E07234730
chr167636923076369336E07334557
chr167636940376369918E07334730
chr167631874176318805E074-15868
chr167631895176319015E074-15658
chr167631930676319373E074-15300
chr167631998676320036E074-14637
chr167632093676320993E074-13680
chr167632121676321266E074-13407
chr167632147576321639E074-13034
chr167632420676324381E074-10292
chr167632601376326063E074-8610
chr167632610576326165E074-8508
chr167633672576336939E0742052
chr167633708376337146E0742410
chr167633812976338354E0743456
chr167634179576341835E0747122
chr167634395576344130E0749282
chr167636870876368943E07434035
chr167636894876368998E07434275
chr167636923076369336E07434557
chr167636940376369918E07434730
chr167631029276310369E081-24304
chr167632121676321266E081-13407
chr167632147576321639E081-13034
chr167631029276310369E082-24304










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167631046676311873E067-22800
chr167631207676312232E067-22441
chr167631258076312889E067-21784
chr167631300576313203E067-21470
chr167631325876313380E067-21293
chr167631338576313429E067-21244
chr167631430776314371E067-20302
chr167631455576314667E067-20006
chr167631046676311873E068-22800
chr167631207676312232E068-22441
chr167631258076312889E068-21784
chr167631300576313203E068-21470
chr167631325876313380E068-21293
chr167631338576313429E068-21244
chr167631344276313492E068-21181
chr167631352276313620E068-21053
chr167631376676313823E068-20850
chr167631409576314150E068-20523
chr167631430776314371E068-20302
chr167631455576314667E068-20006
chr167631046676311873E069-22800
chr167631207676312232E069-22441
chr167631258076312889E069-21784
chr167631300576313203E069-21470
chr167631325876313380E069-21293
chr167631338576313429E069-21244
chr167631344276313492E069-21181
chr167631352276313620E069-21053
chr167631376676313823E069-20850
chr167631409576314150E069-20523
chr167631430776314371E069-20302
chr167631455576314667E069-20006
chr167631046676311873E070-22800
chr167631207676312232E070-22441
chr167631258076312889E070-21784
chr167631300576313203E070-21470
chr167631325876313380E070-21293
chr167631338576313429E070-21244
chr167631344276313492E070-21181
chr167631352276313620E070-21053
chr167631376676313823E070-20850
chr167631409576314150E070-20523
chr167631430776314371E070-20302
chr167631455576314667E070-20006
chr167631046676311873E071-22800
chr167631207676312232E071-22441
chr167631258076312889E071-21784
chr167631300576313203E071-21470
chr167631325876313380E071-21293
chr167631338576313429E071-21244
chr167631344276313492E071-21181
chr167631352276313620E071-21053
chr167631376676313823E071-20850
chr167631409576314150E071-20523
chr167631430776314371E071-20302
chr167631455576314667E071-20006
chr167631046676311873E072-22800
chr167631207676312232E072-22441
chr167631258076312889E072-21784
chr167631300576313203E072-21470
chr167631325876313380E072-21293
chr167631338576313429E072-21244
chr167631344276313492E072-21181
chr167631352276313620E072-21053
chr167631376676313823E072-20850
chr167631409576314150E072-20523
chr167631430776314371E072-20302
chr167631455576314667E072-20006
chr167631046676311873E073-22800
chr167631207676312232E073-22441
chr167631258076312889E073-21784
chr167631430776314371E073-20302
chr167631455576314667E073-20006
chr167631046676311873E074-22800
chr167631207676312232E074-22441
chr167631258076312889E074-21784
chr167631300576313203E074-21470
chr167631325876313380E074-21293
chr167631338576313429E074-21244
chr167631455576314667E074-20006
chr167631046676311873E081-22800
chr167631207676312232E081-22441
chr167631046676311873E082-22800
chr167631207676312232E082-22441
chr167631258076312889E082-21784
chr167631300576313203E082-21470
chr167631325876313380E082-21293
chr167631338576313429E082-21244
chr167631344276313492E082-21181
chr167631352276313620E082-21053
chr167631376676313823E082-20850
chr167631409576314150E082-20523
chr167631430776314371E082-20302
chr167631455576314667E082-20006