rs2193225

Homo sapiens
T>C
NRXN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0416 (12472/29940,GnomAD)
C=0371 (10825/29116,TOPMED)
C=0295 (1477/5008,1000G)
T==0448 (1727/3854,ALSPAC)
T==0456 (1690/3708,TWINSUK)
chr2:50852344 (GRCh38.p7) (2p16.3)
ND
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.50852344T>C
GRCh37.p13 chr 2NC_000002.11:g.51079482T>C
NRXN1 RefSeqGeneNG_011878.1:g.185193A>G

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 alpha1NM_004801.4:c.N/AIntron Variant
NRXN1 transcript variant gamma1NM_001320156.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant gamma2NM_001320157.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant betaNM_138735.2:c.N/AGenic Upstream Transcript 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 X43XM_006712140.3: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 X39XM_011533180.2: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 X37XM_017005329.1: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 X44XM_011533183.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant X45XM_017005334.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant X46XM_017005335.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant X47XM_017005336.1:c.N/AGenic Upstream Transcript Variant
NRXN1 transcript variant X48XM_017005337.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.844C=0.156
1000GenomesAmericanSub694T=0.670C=0.330
1000GenomesEast AsianSub1008T=0.832C=0.168
1000GenomesEuropeSub1006T=0.468C=0.532
1000GenomesGlobalStudy-wide5008T=0.705C=0.295
1000GenomesSouth AsianSub978T=0.650C=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.448C=0.552
The Genome Aggregation DatabaseAfricanSub8722T=0.773C=0.227
The Genome Aggregation DatabaseAmericanSub834T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1612T=0.833C=0.167
The Genome Aggregation DatabaseEuropeSub18470T=0.472C=0.528
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.583C=0.416
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.628C=0.371
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.456C=0.544
PMID Title Author Journal
18270208Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers.Nussbaum JHum Mol Genet
27166759Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.Yang JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs21932250.001Drug response to nicotine18270208

eQTL of rs2193225 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 rs2193225 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 )
chr25108641451086474E0676932
chr25105880851059417E069-20065
chr25105949051059625E069-19857
chr25108543751085624E0695955
chr25104818751048237E070-31245
chr25105706551057315E070-22167
chr25105772051057774E070-21708
chr25105880851059417E070-20065
chr25105949051059625E070-19857
chr25108502651085112E0705544
chr25108543751085624E0705955
chr25108579051085834E0706308
chr25108641451086474E0706932
chr25108959651089661E07010114
chr25109091051091289E07011428
chr25105880851059417E071-20065
chr25105880851059417E072-20065
chr25105949051059625E072-19857
chr25109091051091289E07211428
chr25105880851059417E073-20065
chr25106558951065750E074-13732
chr25106587451066011E074-13471
chr25109091051091289E07411428
chr25105706551057315E081-22167
chr25105880851059417E081-20065
chr25105949051059625E081-19857
chr25105997351060124E081-19358
chr25107787251077975E081-1507
chr25108319551083314E0813713
chr25108343151083593E0813949
chr25108388851084235E0814406
chr25108502651085112E0815544
chr25110282151102924E08123339
chr25110458751104828E08125105
chr25105706551057315E082-22167
chr25105772051057774E082-21708
chr25105880851059417E082-20065
chr25105949051059625E082-19857
chr25108146951081623E0821987
chr25108173651081861E0822254
chr25108319551083314E0823713