rs17065341

Homo sapiens
A>G
UAP1L1 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0008 (255/29948,GnomAD)
G=0013 (399/29118,TOPMED)
G=0007 (37/5008,1000G)
G=0000 (0/3854,ALSPAC)
G=0001 (5/3708,TWINSUK)
chr9:137084167 (GRCh38.p7) (9q34.3)
AD
GWASdb2
1   publication(s)
See rs on genome
205 Enhancers around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.137084167A>G
GRCh37.p13 chr 9NC_000009.11:g.139978619A>G
MAN1B1 RefSeqGeneNG_031978.1:g.2241A>G

Gene: UAP1L1, UDP-N-acetylglucosamine pyrophosphorylase 1 like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UAP1L1 transcriptNM_207309.2:c.N/A3 Prime UTR Variant
UAP1L1 transcript variant X1XM_006717317.3:c.N/AGenic Downstream Transcript Variant
UAP1L1 transcript variant X2XM_011519182.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.973G=0.027
1000GenomesAmericanSub694A=1.000G=0.000
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.993G=0.007
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8730A=0.971G=0.029
The Genome Aggregation DatabaseAmericanSub838A=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18456A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29948A=0.991G=0.008
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.986G=0.013
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.999G=0.001
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs170653410.000566alcohol dependence21314694

eQTL of rs17065341 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 rs17065341 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 )
chr9139928762139930358E067-48261
chr9139958132139958222E067-20397
chr9139958266139958380E067-20239
chr9139958401139958455E067-20164
chr9139958459139958822E067-19797
chr9139958876139958930E067-19689
chr9139965955139966157E067-12462
chr9139966229139966279E067-12340
chr9139966377139966461E067-12158
chr9139966577139966820E067-11799
chr9139966870139966949E067-11670
chr9139979961139980050E0671342
chr9139982430139982522E0673811
chr9139982542139982799E0673923
chr9139982898139982962E0674279
chr9139982992139983033E0674373
chr9140009862140010005E06731243
chr9140010093140010228E06731474
chr9140010231140010335E06731612
chr9140010401140010451E06731782
chr9140010485140010572E06731866
chr9140010665140010766E06732046
chr9140010775140010827E06732156
chr9140010881140010962E06732262
chr9139928762139930358E068-48261
chr9139937943139938113E068-40506
chr9139958401139958455E068-20164
chr9139958459139958822E068-19797
chr9139958876139958930E068-19689
chr9139965955139966157E068-12462
chr9139966229139966279E068-12340
chr9139966377139966461E068-12158
chr9139966577139966820E068-11799
chr9139966870139966949E068-11670
chr9139982430139982522E0683811
chr9139982542139982799E0683923
chr9140010231140010335E06831612
chr9140010401140010451E06831782
chr9140010485140010572E06831866
chr9140010665140010766E06832046
chr9140010775140010827E06832156
chr9140010881140010962E06832262
chr9139928762139930358E069-48261
chr9139935761139935846E069-42773
chr9139935870139935935E069-42684
chr9139936044139936098E069-42521
chr9139936117139936247E069-42372
chr9139936330139936412E069-42207
chr9139937618139937813E069-40806
chr9139937943139938113E069-40506
chr9139944689139945076E069-33543
chr9139958401139958455E069-20164
chr9139958459139958822E069-19797
chr9139958876139958930E069-19689
chr9139963609139963727E069-14892
chr9139966229139966279E069-12340
chr9139966377139966461E069-12158
chr9139966577139966820E069-11799
chr9139966870139966949E069-11670
chr9139968037139968132E069-10487
chr9139968345139968742E069-9877
chr9139979961139980050E0691342
chr9139982430139982522E0693811
chr9139982542139982799E0693923
chr9139982898139982962E0694279
chr9139982992139983033E0694373
chr9139983600139983803E0694981
chr9139983944139984230E0695325
chr9140009862140010005E06931243
chr9140010093140010228E06931474
chr9140010231140010335E06931612
chr9140010401140010451E06931782
chr9140010485140010572E06931866
chr9139937943139938113E070-40506
chr9139951313139951850E070-26769
chr9139951963139952021E070-26598
chr9139958401139958455E070-20164
chr9139958459139958822E070-19797
chr9139958876139958930E070-19689
chr9139962157139963161E070-15458
chr9139965955139966157E070-12462
chr9139982542139982799E0703923
chr9139982898139982962E0704279
chr9139982992139983033E0704373
chr9139983040139983094E0704421
chr9139983287139983337E0704668
chr9139983377139983421E0704758
chr9139983429139983477E0704810
chr9139983600139983803E0704981
chr9139983944139984230E0705325
chr9139984445139984643E0705826
chr9139984651139984784E0706032
chr9140009862140010005E07031243
chr9140010093140010228E07031474
chr9140010231140010335E07031612
chr9139928762139930358E071-48261
chr9139937618139937813E071-40806
chr9139942257139942307E071-36312
chr9139951313139951850E071-26769
chr9139951963139952021E071-26598
chr9139963199139963445E071-15174
chr9139963609139963727E071-14892
chr9139966229139966279E071-12340
chr9139966377139966461E071-12158
chr9139966577139966820E071-11799
chr9139966870139966949E071-11670
chr9139968037139968132E071-10487
chr9139974080139974145E071-4474
chr9139974161139974281E071-4338
chr9139979961139980050E0711342
chr9139982430139982522E0713811
chr9139982542139982799E0713923
chr9139982898139982962E0714279
chr9139982992139983033E0714373
chr9139983040139983094E0714421
chr9139983287139983337E0714668
chr9139983600139983803E0714981
chr9139983944139984230E0715325
chr9140007463140008509E07128844
chr9140009862140010005E07131243
chr9140010093140010228E07131474
chr9140010231140010335E07131612
chr9139937618139937813E072-40806
chr9139937943139938113E072-40506
chr9139958132139958222E072-20397
chr9139958266139958380E072-20239
chr9139958401139958455E072-20164
chr9139958459139958822E072-19797
chr9139958876139958930E072-19689
chr9139965955139966157E072-12462
chr9139966229139966279E072-12340
chr9139966377139966461E072-12158
chr9139966577139966820E072-11799
chr9139966870139966949E072-11670
chr9139968345139968742E072-9877
chr9139982430139982522E0723811
chr9139982542139982799E0723923
chr9140010093140010228E07231474
chr9140010231140010335E07231612
chr9140010401140010451E07231782
chr9140010485140010572E07231866
chr9140010665140010766E07232046
chr9140010775140010827E07232156
chr9139928762139930358E073-48261
chr9139951313139951850E073-26769
chr9139951963139952021E073-26598
chr9139952077139952354E073-26265
chr9139952392139952542E073-26077
chr9139959726139959776E073-18843
chr9139963609139963727E073-14892
chr9139966229139966279E073-12340
chr9139966377139966461E073-12158
chr9139966577139966820E073-11799
chr9139966870139966949E073-11670
chr9139968037139968132E073-10487
chr9139968345139968742E073-9877
chr9139979961139980050E0731342
chr9139982430139982522E0733811
chr9139982542139982799E0733923
chr9139982898139982962E0734279
chr9139982992139983033E0734373
chr9140007463140008509E07328844
chr9140010231140010335E07331612
chr9140010401140010451E07331782
chr9140010485140010572E07331866
chr9140010665140010766E07332046
chr9140010775140010827E07332156
chr9140010881140010962E07332262
chr9140011676140011851E07333057
chr9140011911140012061E07333292
chr9140012133140012254E07333514
chr9140012361140012437E07333742
chr9140012493140012582E07333874
chr9139928762139930358E074-48261
chr9139930388139930681E074-47938
chr9139958132139958222E074-20397
chr9139958266139958380E074-20239
chr9139958401139958455E074-20164
chr9139958459139958822E074-19797
chr9139958876139958930E074-19689
chr9139966229139966279E074-12340
chr9139966377139966461E074-12158
chr9139966577139966820E074-11799
chr9139966870139966949E074-11670
chr9140009862140010005E07431243
chr9139928762139930358E081-48261
chr9139930388139930681E081-47938
chr9139937618139937813E081-40806
chr9139937943139938113E081-40506
chr9139958401139958455E081-20164
chr9139958459139958822E081-19797
chr9139958876139958930E081-19689
chr9139982542139982799E0813923
chr9139982992139983033E0814373
chr9139983040139983094E0814421
chr9139983600139983803E0814981
chr9140007463140008509E08128844
chr9139928762139930358E082-48261
chr9139937618139937813E082-40806
chr9139937943139938113E082-40506
chr9139958401139958455E082-20164
chr9139965955139966157E082-12462
chr9139982898139982962E0824279
chr9139983429139983477E0824810
chr9139983600139983803E0824981










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9139938909139941440E067-37179
chr9139964629139965923E067-12696
chr9139971211139972787E067-5832
chr9139972859139974035E067-4584
chr9139980084139982364E0671465
chr9140008697140009712E06730078
chr9139938909139941440E068-37179
chr9139964629139965923E068-12696
chr9139971211139972787E068-5832
chr9139980084139982364E0681465
chr9140008697140009712E06830078
chr9140021365140025162E06842746
chr9139938909139941440E069-37179
chr9139964629139965923E069-12696
chr9139971211139972787E069-5832
chr9139980084139982364E0691465
chr9140008697140009712E06930078
chr9140021365140025162E06942746
chr9139938909139941440E070-37179
chr9139964629139965923E070-12696
chr9139980084139982364E0701465
chr9139938909139941440E071-37179
chr9139964629139965923E071-12696
chr9139971211139972787E071-5832
chr9139980084139982364E0711465
chr9140008697140009712E07130078
chr9140021365140025162E07142746
chr9139938909139941440E072-37179
chr9139963850139964498E072-14121
chr9139964629139965923E072-12696
chr9139971211139972787E072-5832
chr9139980084139982364E0721465
chr9140008697140009712E07230078
chr9140021365140025162E07242746
chr9139938909139941440E073-37179
chr9139964629139965923E073-12696
chr9139971211139972787E073-5832
chr9139980084139982364E0731465
chr9140008697140009712E07330078
chr9140021365140025162E07342746
chr9139938909139941440E074-37179
chr9139964629139965923E074-12696
chr9139971211139972787E074-5832
chr9139980084139982364E0741465
chr9140008697140009712E07430078
chr9140021365140025162E07442746
chr9139938909139941440E082-37179
chr9139963732139963840E082-14779
chr9139964629139965923E082-12696
chr9139980084139982364E0821465
chr9140008697140009712E08230078
chr9140021365140025162E08242746