rs10483889

Homo sapiens
T>G
NRXN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0155 (4646/29948,GnomAD)
G=0123 (3603/29118,TOPMED)
G=0108 (543/5008,1000G)
G=0206 (792/3854,ALSPAC)
G=0203 (752/3708,TWINSUK)
chr14:78091162 (GRCh38.p7) (14q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.78091162T>G
GRCh37.p13 chr 14NC_000014.8:g.78557505T>G

Gene: NRXN3, neurexin 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NRXN3 transcript variant 3NM_001105250.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant 4NM_001272020.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant 1NM_004796.5:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant 2NM_138970.4:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant 5NR_073546.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant 6NR_073547.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X2XM_011537364.2:c.N/AIntron Variant
NRXN3 transcript variant X3XM_017021790.1:c.N/AIntron Variant
NRXN3 transcript variant X4XM_017021791.1:c.N/AIntron Variant
NRXN3 transcript variant X6XM_005268218.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X7XM_006720322.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X21XM_006720323.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X1XM_011537363.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X5XM_011537365.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X9XM_011537366.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X15XM_011537367.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X19XM_011537368.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X20XM_011537369.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X21XM_011537370.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X25XM_011537371.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X26XM_011537372.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X31XM_011537373.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X44XM_011537377.2:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X8XM_017021792.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X10XM_017021793.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X11XM_017021794.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X12XM_017021795.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X13XM_017021796.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X13XM_017021797.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X14XM_017021798.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X17XM_017021799.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X22XM_017021800.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X23XM_017021801.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X24XM_017021802.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X27XM_017021803.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X28XM_017021804.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X29XM_017021805.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X30XM_017021806.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X30XM_017021807.1:c.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X32XR_001750599.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X33XR_001750600.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X34XR_001750601.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X35XR_001750602.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X36XR_001750603.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X37XR_001750604.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X38XR_001750605.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X39XR_001750606.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X40XR_001750607.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X41XR_001750608.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X42XR_001750609.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X44XR_001750610.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X45XR_943561.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X47XR_943562.1:n.N/AGenic Upstream Transcript Variant
NRXN3 transcript variant X46XR_943563.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.988G=0.012
1000GenomesAmericanSub694T=0.890G=0.110
1000GenomesEast AsianSub1008T=0.961G=0.039
1000GenomesEuropeSub1006T=0.780G=0.220
1000GenomesGlobalStudy-wide5008T=0.892G=0.108
1000GenomesSouth AsianSub978T=0.810G=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.794G=0.206
The Genome Aggregation DatabaseAfricanSub8720T=0.965G=0.035
The Genome Aggregation DatabaseAmericanSub838T=0.880G=0.120
The Genome Aggregation DatabaseEast AsianSub1622T=0.967G=0.033
The Genome Aggregation DatabaseEuropeSub18466T=0.777G=0.222
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.844G=0.155
The Genome Aggregation DatabaseOtherSub302T=0.760G=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.876G=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.797G=0.203
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs104838890.00034alcohol dependence(early age of onset)20201924
rs104838890.00083alcohol dependence20201924

eQTL of rs10483889 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 rs10483889 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 )
chr147851259978512698E067-44807
chr147851281978513073E067-44432
chr147854100778541277E067-16228
chr147854154578541632E067-15873
chr147856342478563484E0675919
chr147856375878563894E0676253
chr147859771678597815E06740211
chr147859808978598345E06740584
chr147859855078598647E06741045
chr147854100778541277E068-16228
chr147854154578541632E068-15873
chr147854198178542057E068-15448
chr147859808978598345E06840584
chr147859855078598647E06841045
chr147851456278514774E069-42731
chr147854100778541277E069-16228
chr147854154578541632E069-15873
chr147856342478563484E0695919
chr147856375878563894E0696253
chr147859771678597815E06940211
chr147859808978598345E06940584
chr147854024578540285E070-17220
chr147854060778540695E070-16810
chr147854100778541277E070-16228
chr147854154578541632E070-15873
chr147854198178542057E070-15448
chr147854235178542444E070-15061
chr147858894478589309E07031439
chr147858935778589425E07031852
chr147851259978512698E071-44807
chr147851281978513073E071-44432
chr147854060778540695E071-16810
chr147854154578541632E071-15873
chr147854198178542057E071-15448
chr147854235178542444E071-15061
chr147856342478563484E0715919
chr147856375878563894E0716253
chr147859808978598345E07140584
chr147859855078598647E07141045
chr147851259978512698E072-44807
chr147854100778541277E072-16228
chr147854154578541632E072-15873
chr147854198178542057E072-15448
chr147855681678556866E072-639
chr147856482478564927E0727319
chr147859771678597815E07240211
chr147859808978598345E07240584
chr147859808978598345E07340584
chr147859855078598647E07341045
chr147851281978513073E074-44432
chr147854100778541277E074-16228
chr147854154578541632E074-15873
chr147854198178542057E074-15448
chr147854235178542444E074-15061
chr147855681678556866E074-639
chr147856342478563484E0745919
chr147856375878563894E0746253
chr147859771678597815E07440211
chr147859808978598345E07440584
chr147859855078598647E07441045
chr147854154578541632E081-15873
chr147854198178542057E081-15448
chr147854235178542444E081-15061
chr147858846078588514E08130955
chr147858894478589309E08131439
chr147858935778589425E08131852
chr147858955178589601E08132046
chr147858968778589764E08132182