rs851712

Homo sapiens
A>G
CNTNAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0421 (12606/29900,GnomAD)
A==0398 (11591/29118,TOPMED)
A==0383 (1916/5008,1000G)
A==0447 (1724/3854,ALSPAC)
A==0443 (1644/3708,TWINSUK)
chr7:147831639 (GRCh38.p7) (7q35)
ND
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.147831639A>G
GRCh37.p13 chr 7NC_000007.13:g.147528731A>G
CNTNAP2 RefSeqGeneNG_007092.2:g.1720279A>G

Gene: CNTNAP2, contactin associated protein-like 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CNTNAP2 transcriptNM_014141.5:c.N/AIntron Variant
CNTNAP2 transcript variant X1XM_017011950.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.334G=0.666
1000GenomesAmericanSub694A=0.380G=0.620
1000GenomesEast AsianSub1008A=0.275G=0.725
1000GenomesEuropeSub1006A=0.457G=0.543
1000GenomesGlobalStudy-wide5008A=0.383G=0.617
1000GenomesSouth AsianSub978A=0.480G=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.447G=0.553
The Genome Aggregation DatabaseAfricanSub8694A=0.344G=0.656
The Genome Aggregation DatabaseAmericanSub836A=0.350G=0.650
The Genome Aggregation DatabaseEast AsianSub1612A=0.306G=0.694
The Genome Aggregation DatabaseEuropeSub18458A=0.472G=0.527
The Genome Aggregation DatabaseGlobalStudy-wide29900A=0.421G=0.578
The Genome Aggregation DatabaseOtherSub300A=0.350G=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.398G=0.601
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.443G=0.557
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs8517122.61E-06alcohol and nictotine co-dependence20158304

eQTL of rs851712 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 rs851712 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 )
chr7147506223147506291E067-22440
chr7147506373147506462E067-22269
chr7147506601147507245E067-21486
chr7147530470147530991E0671739
chr7147531017147531067E0672286
chr7147531248147531425E0672517
chr7147531631147531705E0672900
chr7147576514147576706E06747783
chr7147576918147577057E06748187
chr7147577099147577176E06748368
chr7147577547147577653E06748816
chr7147506223147506291E068-22440
chr7147506373147506462E068-22269
chr7147506601147507245E068-21486
chr7147531631147531705E0682900
chr7147576514147576706E06847783
chr7147576918147577057E06848187
chr7147577099147577176E06848368
chr7147577547147577653E06848816
chr7147506223147506291E069-22440
chr7147506373147506462E069-22269
chr7147530470147530991E0691739
chr7147531017147531067E0692286
chr7147531248147531425E0692517
chr7147558255147558374E06929524
chr7147575869147576212E06947138
chr7147576242147576407E06947511
chr7147576514147576706E06947783
chr7147576918147577057E06948187
chr7147577099147577176E06948368
chr7147575869147576212E07047138
chr7147576242147576407E07047511
chr7147576514147576706E07047783
chr7147576918147577057E07048187
chr7147577099147577176E07048368
chr7147486310147486502E071-42229
chr7147486743147486830E071-41901
chr7147530470147530991E0711739
chr7147531248147531425E0712517
chr7147558255147558374E07129524
chr7147576918147577057E07148187
chr7147577099147577176E07148368
chr7147577547147577653E07148816
chr7147530470147530991E0721739
chr7147531017147531067E0722286
chr7147558255147558374E07229524
chr7147576918147577057E07248187
chr7147577099147577176E07248368
chr7147577547147577653E07248816
chr7147530470147530991E0731739
chr7147531017147531067E0732286
chr7147485822147485954E074-42777
chr7147486310147486502E074-42229
chr7147486743147486830E074-41901
chr7147493888147493957E074-34774
chr7147506223147506291E074-22440
chr7147506373147506462E074-22269
chr7147556681147556731E07427950
chr7147558255147558374E07429524
chr7147575094147575218E07446363
chr7147575869147576212E07447138
chr7147576918147577057E07448187
chr7147577099147577176E07448368
chr7147577547147577653E07448816
chr7147506373147506462E081-22269
chr7147506601147507245E081-21486
chr7147526162147526458E081-2273
chr7147576242147576407E08147511
chr7147576514147576706E08147783
chr7147531017147531067E0822286
chr7147531248147531425E0822517