rs11681792

Homo sapiens
C>T
NRXN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0127 (3813/29942,GnomAD)
T=0086 (2524/29116,TOPMED)
T=0082 (410/5008,1000G)
T=0162 (624/3854,ALSPAC)
T=0169 (625/3708,TWINSUK)
chr2:49957256 (GRCh38.p7) (2p16.3)
AD
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.49957256C>T
GRCh37.p13 chr 2NC_000002.11:g.50184394C>T
NRXN1 RefSeqGeneNG_011878.1:g.1080281G>A

Gene: NRXN1, neurexin 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NRXN1 transcript variant alpha2NM_001135659.1:c.N/AIntron Variant
NRXN1 transcript variant gamma1NM_001320156.1:c.N/AIntron Variant
NRXN1 transcript variant gamma2NM_001320157.1:c.N/AIntron Variant
NRXN1 transcript variant alpha1NM_004801.4:c.N/AIntron Variant
NRXN1 transcript variant betaNM_138735.2:c.N/AIntron Variant
NRXN1 transcript variant X10XM_005264642.3:c.N/AIntron Variant
NRXN1 transcript variant X23XM_005264643.3:c.N/AIntron Variant
NRXN1 transcript variant X31XM_006712137.3:c.N/AIntron Variant
NRXN1 transcript variant X7XM_011533167.2:c.N/AIntron Variant
NRXN1 transcript variant X12XM_011533171.2:c.N/AIntron Variant
NRXN1 transcript variant X14XM_011533172.2:c.N/AIntron Variant
NRXN1 transcript variant X20XM_011533174.2:c.N/AIntron Variant
NRXN1 transcript variant X24XM_011533175.2:c.N/AIntron Variant
NRXN1 transcript variant X29XM_011533177.2:c.N/AIntron Variant
NRXN1 transcript variant X30XM_011533178.2:c.N/AIntron Variant
NRXN1 transcript variant X44XM_011533183.1:c.N/AIntron Variant
NRXN1 transcript variant X1XM_017005303.1:c.N/AIntron Variant
NRXN1 transcript variant X2XM_017005304.1:c.N/AIntron Variant
NRXN1 transcript variant X3XM_017005305.1:c.N/AIntron Variant
NRXN1 transcript variant X4XM_017005306.1:c.N/AIntron Variant
NRXN1 transcript variant X5XM_017005307.1:c.N/AIntron Variant
NRXN1 transcript variant X6XM_017005308.1:c.N/AIntron Variant
NRXN1 transcript variant X8XM_017005309.1:c.N/AIntron Variant
NRXN1 transcript variant X9XM_017005310.1:c.N/AIntron Variant
NRXN1 transcript variant X11XM_017005311.1:c.N/AIntron Variant
NRXN1 transcript variant X13XM_017005312.1:c.N/AIntron Variant
NRXN1 transcript variant X15XM_017005313.1:c.N/AIntron Variant
NRXN1 transcript variant X16XM_017005314.1:c.N/AIntron Variant
NRXN1 transcript variant X17XM_017005315.1:c.N/AIntron Variant
NRXN1 transcript variant X18XM_017005316.1:c.N/AIntron Variant
NRXN1 transcript variant X19XM_017005317.1:c.N/AIntron Variant
NRXN1 transcript variant X21XM_017005318.1:c.N/AIntron Variant
NRXN1 transcript variant X22XM_017005319.1:c.N/AIntron Variant
NRXN1 transcript variant X25XM_017005320.1:c.N/AIntron Variant
NRXN1 transcript variant X26XM_017005321.1:c.N/AIntron Variant
NRXN1 transcript variant X27XM_017005322.1:c.N/AIntron Variant
NRXN1 transcript variant X28XM_017005323.1:c.N/AIntron Variant
NRXN1 transcript variant X32XM_017005324.1:c.N/AIntron Variant
NRXN1 transcript variant X33XM_017005325.1:c.N/AIntron Variant
NRXN1 transcript variant X34XM_017005326.1:c.N/AIntron Variant
NRXN1 transcript variant X35XM_017005327.1:c.N/AIntron Variant
NRXN1 transcript variant X36XM_017005328.1:c.N/AIntron Variant
NRXN1 transcript variant X38XM_017005330.1:c.N/AIntron Variant
NRXN1 transcript variant X40XM_017005331.1:c.N/AIntron Variant
NRXN1 transcript variant X41XM_017005332.1:c.N/AIntron Variant
NRXN1 transcript variant X42XM_017005333.1:c.N/AIntron Variant
NRXN1 transcript variant X45XM_017005334.1:c.N/AIntron Variant
NRXN1 transcript variant X46XM_017005335.1:c.N/AIntron Variant
NRXN1 transcript variant X47XM_017005336.1:c.N/AIntron Variant
NRXN1 transcript variant X48XM_017005337.1:c.N/AIntron Variant
NRXN1 transcript variant X43XM_006712140.3:c.N/AGenic Downstream Transcript Variant
NRXN1 transcript variant X39XM_011533180.2:c.N/AGenic Downstream Transcript Variant
NRXN1 transcript variant X37XM_017005329.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.994T=0.006
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.828T=0.172
1000GenomesGlobalStudy-wide5008C=0.918T=0.082
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.838T=0.162
The Genome Aggregation DatabaseAfricanSub8732C=0.967T=0.033
The Genome Aggregation DatabaseAmericanSub836C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1602C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18470C=0.817T=0.182
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.872T=0.127
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.913T=0.086
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.831T=0.169
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs116817924E-07alcohol dependence23942779

eQTL of rs11681792 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 rs11681792 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 )
chr25015163650151875E067-32519
chr25017602350176133E067-8261
chr25018674950187477E0672355
chr25018768850187876E0673294
chr25018830350188437E0673909
chr25018674950187477E0682355
chr25018768850187876E0683294
chr25023378750234137E06849393
chr25023413950234199E06849745
chr25015103950151089E069-33305
chr25015121850151303E069-33091
chr25015132850151542E069-32852
chr25018554650185644E0691152
chr25018654550186595E0692151
chr25018674950187477E0692355
chr25018768850187876E0693294
chr25019931550199403E06914921
chr25018830350188437E0703909
chr25019983850200263E07015444
chr25018674950187477E0712355
chr25018830350188437E0713909
chr25019931550199403E07114921
chr25014152050141749E072-42645
chr25017537950175429E072-8965
chr25017780050178167E072-6227
chr25018674950187477E0722355
chr25019931550199403E07214921
chr25014104750141468E073-42926
chr25018768850187876E0733294
chr25018830350188437E0733909
chr25017780050178167E074-6227
chr25018674950187477E0742355
chr25018830350188437E0743909
chr25019983850200263E07415444
chr25020058450200634E07416190
chr25020067050200720E07416276
chr25018161750181671E081-2723
chr25018554650185644E0811152
chr25018830350188437E0813909
chr25019931550199403E08114921
chr25019983850200263E08115444
chr25020058450200634E08116190
chr25020067050200720E08116276
chr25018554650185644E0821152
chr25018654550186595E0822151
chr25018674950187477E0822355










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr25020104250201620E06716648
chr25020104250201620E06816648
chr25020104250201620E06916648
chr25020104250201620E07016648
chr25020104250201620E07116648
chr25020104250201620E07216648
chr25020104250201620E07316648
chr25020104250201620E07416648
chr25020104250201620E08116648
chr25020104250201620E08216648