rs1386449

Homo sapiens
A>G
NAV2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0033 (997/29998,GnomAD)
A==0052 (1537/29118,TOPMED)
A==0039 (194/5008,1000G)
A==0000 (1/3854,ALSPAC)
A==0001 (2/3708,TWINSUK)
chr11:19466536 (GRCh38.p7) (11p15.1)
AD
GWASdb2
2   publication(s)
See rs on genome
231 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.19466536A>G
GRCh37.p13 chr 11NC_000011.9:g.19488083A>G
NAV2 RefSeqGeneNG_030347.1:g.120813A>G

Gene: NAV2, neuron navigator 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NAV2 transcript variant 3NM_001111018.1:c.N/AIntron Variant
NAV2 transcript variant 4NM_001111019.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant 5NM_001244963.1:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant 2NM_145117.4:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant 1NM_182964.5:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X16XM_011520452.2:c.N/AIntron Variant
NAV2 transcript variant X9XM_017018520.1:c.N/AIntron Variant
NAV2 transcript variant X14XM_017018522.1:c.N/AIntron Variant
NAV2 transcript variant X23XM_005253214.4:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X3XM_006718364.3:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X4XM_006718365.3:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X11XM_006718366.3:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X21XM_006718367.3:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X22XM_006718368.3:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X24XM_006718369.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X1XM_011520444.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X2XM_011520445.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X5XM_011520446.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X6XM_011520447.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X7XM_011520448.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X8XM_011520449.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X10XM_011520450.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X15XM_011520451.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X25XM_011520453.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X26XM_011520454.2:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X12XM_017018521.1:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X17XM_017018523.1:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X17XM_017018524.1:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X19XM_017018525.1:c.N/AGenic Upstream Transcript Variant
NAV2 transcript variant X20XM_017018526.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.144G=0.856
1000GenomesAmericanSub694A=0.000G=1.000
1000GenomesEast AsianSub1008A=0.000G=1.000
1000GenomesEuropeSub1006A=0.000G=1.000
1000GenomesGlobalStudy-wide5008A=0.039G=0.961
1000GenomesSouth AsianSub978A=0.000G=1.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.000G=1.000
The Genome Aggregation DatabaseAfricanSub8730A=0.113G=0.887
The Genome Aggregation DatabaseAmericanSub838A=0.000G=1.000
The Genome Aggregation DatabaseEast AsianSub1622A=0.001G=0.999
The Genome Aggregation DatabaseEuropeSub18506A=0.000G=0.999
The Genome Aggregation DatabaseGlobalStudy-wide29998A=0.033G=0.966
The Genome Aggregation DatabaseOtherSub302A=0.000G=1.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.052G=0.947
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.001G=0.999
PMID Title Author Journal
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs13864490.00000568alcohol dependence20202923
rs13864490.000042alcohol dependence21956439

eQTL of rs1386449 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 rs1386449 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 )
chr111944380219444261E067-43822
chr111944438619444492E067-43591
chr111944827719448331E067-39752
chr111944841719448576E067-39507
chr111944860619448673E067-39410
chr111944870219448848E067-39235
chr111945186819451986E067-36097
chr111945200419452195E067-35888
chr111945240919452537E067-35546
chr111945275419452827E067-35256
chr111948233519482558E067-5525
chr111948259319482926E067-5157
chr111948302019483195E067-4888
chr111949745119497529E0679368
chr111953109719531195E06743014
chr111953200519532077E06743922
chr111953220519532260E06744122
chr111953267019533772E06744587
chr111953416119534254E06746078
chr111944380219444261E068-43822
chr111944757919447842E068-40241
chr111944802619448217E068-39866
chr111944827719448331E068-39752
chr111944841719448576E068-39507
chr111944860619448673E068-39410
chr111944870219448848E068-39235
chr111944906919449119E068-38964
chr111945186819451986E068-36097
chr111945200419452195E068-35888
chr111945240919452537E068-35546
chr111945275419452827E068-35256
chr111945332019453388E068-34695
chr111946299919464326E068-23757
chr111948233519482558E068-5525
chr111948259319482926E068-5157
chr111949562819495682E0687545
chr111949576919495829E0687686
chr111949604619496135E0687963
chr111949639219497272E0688309
chr111949745119497529E0689368
chr111952854719528608E06840464
chr111953200519532077E06843922
chr111953220519532260E06844122
chr111953267019533772E06844587
chr111944276419442821E069-45262
chr111944286719442987E069-45096
chr111944368219443758E069-44325
chr111944380219444261E069-43822
chr111944802619448217E069-39866
chr111944827719448331E069-39752
chr111944841719448576E069-39507
chr111944860619448673E069-39410
chr111944870219448848E069-39235
chr111944906919449119E069-38964
chr111945186819451986E069-36097
chr111945200419452195E069-35888
chr111945240919452537E069-35546
chr111945275419452827E069-35256
chr111946798719468149E069-19934
chr111946830119468398E069-19685
chr111948233519482558E069-5525
chr111948259319482926E069-5157
chr111948747919487848E069-235
chr111949420319494275E0696120
chr111949428219494342E0696199
chr111949442719494489E0696344
chr111949562819495682E0697545
chr111949576919495829E0697686
chr111949604619496135E0697963
chr111949745119497529E0699368
chr111952974219529973E06941659
chr111953072719530767E06942644
chr111953109719531195E06943014
chr111953200519532077E06943922
chr111953220519532260E06944122
chr111953267019533772E06944587
chr111953416119534254E06946078
chr111953428019534443E06946197
chr111953462719534677E06946544
chr111944802619448217E070-39866
chr111944827719448331E070-39752
chr111944841719448576E070-39507
chr111944860619448673E070-39410
chr111944870219448848E070-39235
chr111945200419452195E070-35888
chr111945240919452537E070-35546
chr111945275419452827E070-35256
chr111945389819454651E070-33432
chr111945470419454840E070-33243
chr111948233519482558E070-5525
chr111948259319482926E070-5157
chr111948747919487848E070-235
chr111949562819495682E0707545
chr111949576919495829E0707686
chr111949604619496135E0707963
chr111949639219497272E0708309
chr111949745119497529E0709368
chr111952854719528608E07040464
chr111952877819528974E07040695
chr111953200519532077E07043922
chr111953220519532260E07044122
chr111953267019533772E07044587
chr111944221919442259E071-45824
chr111944368219443758E071-44325
chr111944380219444261E071-43822
chr111944438619444492E071-43591
chr111944699019447040E071-41043
chr111944757919447842E071-40241
chr111944802619448217E071-39866
chr111944827719448331E071-39752
chr111944841719448576E071-39507
chr111944860619448673E071-39410
chr111944870219448848E071-39235
chr111944906919449119E071-38964
chr111944987819449946E071-38137
chr111944999719450137E071-37946
chr111945059019450905E071-37178
chr111945106819451210E071-36873
chr111945127519451325E071-36758
chr111945186819451986E071-36097
chr111945200419452195E071-35888
chr111945240919452537E071-35546
chr111945275419452827E071-35256
chr111945546719455715E071-32368
chr111946830119468398E071-19685
chr111946841919468473E071-19610
chr111947708019477227E071-10856
chr111947732919477595E071-10488
chr111947778419477895E071-10188
chr111947812019478174E071-9909
chr111948259319482926E071-5157
chr111948747919487848E071-235
chr111949562819495682E0717545
chr111949576919495829E0717686
chr111949604619496135E0717963
chr111949745119497529E0719368
chr111952854719528608E07140464
chr111952877819528974E07140695
chr111953200519532077E07143922
chr111953220519532260E07144122
chr111953416119534254E07146078
chr111953428019534443E07146197
chr111953462719534677E07146544
chr111953499919535065E07146916
chr111953522619535285E07147143
chr111944368219443758E072-44325
chr111944380219444261E072-43822
chr111944438619444492E072-43591
chr111944802619448217E072-39866
chr111944827719448331E072-39752
chr111944841719448576E072-39507
chr111944860619448673E072-39410
chr111944870219448848E072-39235
chr111944906919449119E072-38964
chr111945186819451986E072-36097
chr111945200419452195E072-35888
chr111945240919452537E072-35546
chr111945275419452827E072-35256
chr111948233519482558E072-5525
chr111948259319482926E072-5157
chr111948747919487848E072-235
chr111949562819495682E0727545
chr111949576919495829E0727686
chr111949604619496135E0727963
chr111949639219497272E0728309
chr111949745119497529E0729368
chr111953200519532077E07243922
chr111953220519532260E07244122
chr111953267019533772E07244587
chr111944841719448576E073-39507
chr111944860619448673E073-39410
chr111944870219448848E073-39235
chr111945200419452195E073-35888
chr111945240919452537E073-35546
chr111945275419452827E073-35256
chr111948259319482926E073-5157
chr111948302019483195E073-4888
chr111949604619496135E0737963
chr111949639219497272E0738309
chr111953200519532077E07343922
chr111953220519532260E07344122
chr111953267019533772E07344587
chr111944368219443758E074-44325
chr111944380219444261E074-43822
chr111944438619444492E074-43591
chr111944699019447040E074-41043
chr111944757919447842E074-40241
chr111944802619448217E074-39866
chr111944827719448331E074-39752
chr111944841719448576E074-39507
chr111944906919449119E074-38964
chr111945186819451986E074-36097
chr111945200419452195E074-35888
chr111945240919452537E074-35546
chr111945275419452827E074-35256
chr111947708019477227E074-10856
chr111947732919477595E074-10488
chr111947891219479020E074-9063
chr111948233519482558E074-5525
chr111948259319482926E074-5157
chr111948747919487848E074-235
chr111949562819495682E0747545
chr111949576919495829E0747686
chr111949604619496135E0747963
chr111949639219497272E0748309
chr111949745119497529E0749368
chr111949820919498259E07410126
chr111949832019498370E07410237
chr111953200519532077E07443922
chr111953220519532260E07444122
chr111953267019533772E07444587
chr111953416119534254E07446078
chr111953428019534443E07446197
chr111953462719534677E07446544
chr111953499919535065E07446916
chr111953522619535285E07447143
chr111953593519535985E07447852
chr111945389819454651E081-33432
chr111945470419454840E081-33243
chr111945492419455265E081-32818
chr111948233519482558E081-5525
chr111948259319482926E081-5157
chr111948302019483195E081-4888
chr111948747919487848E081-235
chr111949639219497272E0818309
chr111953267019533772E08144587
chr111948233519482558E082-5525
chr111948259319482926E082-5157
chr111948302019483195E082-4888
chr111948335219483420E082-4663
chr111953267019533772E08244587










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr111948815619488216E06773
chr111948825019488300E067167
chr111948815619488216E06973
chr111948825019488300E069167
chr111948815619488216E07173
chr111948825019488300E071167
chr111948815619488216E07273
chr111948825019488300E072167
chr111948815619488216E07373
chr111948825019488300E073167
chr111948815619488216E07473
chr111948825019488300E074167