rs4903712

Homo sapiens
T>C
NRXN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0194 (5808/29904,GnomAD)
C=0156 (4566/29118,TOPMED)
C=0129 (648/5008,1000G)
C=0276 (1063/3854,ALSPAC)
C=0266 (987/3708,TWINSUK)
chr14:78149250 (GRCh38.p7) (14q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
65 Enhancers around
94 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.78149250T>C
GRCh37.p13 chr 14NC_000014.8:g.78615593T>C

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=0.965C=0.035
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.985C=0.015
1000GenomesEuropeSub1006T=0.735C=0.265
1000GenomesGlobalStudy-wide5008T=0.871C=0.129
1000GenomesSouth AsianSub978T=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.724C=0.276
The Genome Aggregation DatabaseAfricanSub8702T=0.936C=0.064
The Genome Aggregation DatabaseAmericanSub836T=0.810C=0.190
The Genome Aggregation DatabaseEast AsianSub1616T=0.994C=0.006
The Genome Aggregation DatabaseEuropeSub18448T=0.729C=0.270
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.805C=0.194
The Genome Aggregation DatabaseOtherSub302T=0.680C=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.843C=0.156
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.734C=0.266
PMID Title Author Journal
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs49037121.67E-06alcohol dependence23691058

eQTL of rs4903712 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 rs4903712 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr147859771678597815E067-17778
chr147859808978598345E067-17248
chr147859855078598647E067-16946
chr147863602878636078E06720435
chr147863612678636179E06720533
chr147864417578644711E06728582
chr147864482778644918E06729234
chr147859808978598345E068-17248
chr147859855078598647E068-16946
chr147859771678597815E069-17778
chr147859808978598345E069-17248
chr147861859478619202E0693001
chr147858894478589309E070-26284
chr147858935778589425E070-26168
chr147861925178619349E0703658
chr147861942178619559E0703828
chr147861964378619835E0704050
chr147862372578623775E0708132
chr147862394878623998E0708355
chr147862402278624090E0708429
chr147862432978624389E0708736
chr147862443278624724E0708839
chr147864232578642389E07026732
chr147864248178642554E07026888
chr147864417578644711E07028582
chr147864482778644918E07029234
chr147864769478647744E07032101
chr147864780678647856E07032213
chr147865020478650254E07034611
chr147865038178650441E07034788
chr147865057178650847E07034978
chr147865116078651210E07035567
chr147866056578660615E07044972
chr147866113178661285E07045538
chr147866148778661541E07045894
chr147866231078662364E07046717
chr147866248778662614E07046894
chr147866279378662899E07047200
chr147866380378663909E07048210
chr147866464178664912E07049048
chr147859808978598345E071-17248
chr147859855078598647E071-16946
chr147861859478619202E0713001
chr147862394878623998E0718355
chr147862402278624090E0718429
chr147862432978624389E0718736
chr147859771678597815E072-17778
chr147859808978598345E072-17248
chr147863602878636078E07220435
chr147863612678636179E07220533
chr147864482778644918E07229234
chr147859808978598345E073-17248
chr147859855078598647E073-16946
chr147865579478655844E07340201
chr147859771678597815E074-17778
chr147859808978598345E074-17248
chr147859855078598647E074-16946
chr147858846078588514E081-27079
chr147858894478589309E081-26284
chr147858935778589425E081-26168
chr147858955178589601E081-25992
chr147858968778589764E081-25829
chr147864780678647856E08132213
chr147866248778662614E08246894
chr147866279378662899E08247200










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr147863637978637216E06720786
chr147863765378637712E06722060
chr147863777678637853E06722183
chr147863795778638049E06722364
chr147863851378638607E06722920
chr147863888578638994E06723292
chr147863911278639185E06723519
chr147863928278639342E06723689
chr147863637978637216E06820786
chr147863765378637712E06822060
chr147863777678637853E06822183
chr147863795778638049E06822364
chr147863851378638607E06822920
chr147863888578638994E06823292
chr147863911278639185E06823519
chr147863928278639342E06823689
chr147863964678639987E06824053
chr147864008078640230E06824487
chr147864029178640341E06824698
chr147864058678640697E06824993
chr147863765378637712E06922060
chr147863777678637853E06922183
chr147863795778638049E06922364
chr147863851378638607E06922920
chr147863888578638994E06923292
chr147863911278639185E06923519
chr147863928278639342E06923689
chr147863964678639987E06924053
chr147863637978637216E07020786
chr147863765378637712E07022060
chr147863777678637853E07022183
chr147863795778638049E07022364
chr147863851378638607E07022920
chr147863888578638994E07023292
chr147863911278639185E07023519
chr147863928278639342E07023689
chr147863964678639987E07024053
chr147864008078640230E07024487
chr147864029178640341E07024698
chr147864058678640697E07024993
chr147864109778641177E07025504
chr147864173778641828E07026144
chr147864216578642229E07026572
chr147863637978637216E07120786
chr147863765378637712E07122060
chr147863777678637853E07122183
chr147863795778638049E07122364
chr147863851378638607E07122920
chr147863637978637216E07220786
chr147863765378637712E07222060
chr147863777678637853E07222183
chr147863795778638049E07222364
chr147863851378638607E07222920
chr147863888578638994E07223292
chr147863911278639185E07223519
chr147863928278639342E07223689
chr147863964678639987E07224053
chr147864008078640230E07224487
chr147864029178640341E07224698
chr147864058678640697E07224993
chr147864109778641177E07225504
chr147863637978637216E07320786
chr147863765378637712E07322060
chr147863777678637853E07322183
chr147863795778638049E07322364
chr147863851378638607E07322920
chr147863888578638994E07323292
chr147863911278639185E07323519
chr147863928278639342E07323689
chr147863765378637712E08122060
chr147863777678637853E08122183
chr147863795778638049E08122364
chr147863851378638607E08122920
chr147863888578638994E08123292
chr147863911278639185E08123519
chr147863928278639342E08123689
chr147863964678639987E08124053
chr147864008078640230E08124487
chr147864029178640341E08124698
chr147864058678640697E08124993
chr147863637978637216E08220786
chr147863765378637712E08222060
chr147863777678637853E08222183
chr147863795778638049E08222364
chr147863851378638607E08222920
chr147863888578638994E08223292
chr147863911278639185E08223519
chr147863928278639342E08223689
chr147863964678639987E08224053
chr147864008078640230E08224487
chr147864029178640341E08224698
chr147864058678640697E08224993
chr147864109778641177E08225504
chr147864173778641828E08226144