rs11167990

Homo sapiens
A>G
DPYSL3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0301 (9035/29946,GnomAD)
A==0248 (7242/29118,TOPMED)
A==0163 (815/5008,1000G)
A==0437 (1686/3854,ALSPAC)
A==0440 (1630/3708,TWINSUK)
chr5:147412193 (GRCh38.p7) (5q32)
AD
GWASdb2
1   publication(s)
See rs on genome
152 Enhancers around
54 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.147412193A>G
GRCh37.p13 chr 5NC_000005.9:g.146791756A>G

Gene: DPYSL3, dihydropyrimidinase like 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DPYSL3 transcript variant 1NM_001197294.1:c.N/AIntron Variant
DPYSL3 transcript variant 2NM_001387.2:c.N/AIntron Variant
DPYSL3 transcript variant X1XM_011537574.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.021G=0.979
1000GenomesAmericanSub694A=0.260G=0.740
1000GenomesEast AsianSub1008A=0.001G=0.999
1000GenomesEuropeSub1006A=0.450G=0.550
1000GenomesGlobalStudy-wide5008A=0.163G=0.837
1000GenomesSouth AsianSub978A=0.150G=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.437G=0.563
The Genome Aggregation DatabaseAfricanSub8722A=0.084G=0.916
The Genome Aggregation DatabaseAmericanSub838A=0.260G=0.740
The Genome Aggregation DatabaseEast AsianSub1622A=0.002G=0.998
The Genome Aggregation DatabaseEuropeSub18462A=0.431G=0.568
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.301G=0.698
The Genome Aggregation DatabaseOtherSub302A=0.380G=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.248G=0.751
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.440G=0.560
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
rs111679900.000719alcohol dependence21314694

eQTL of rs11167990 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 rs11167990 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 )
chr5146783197146784544E067-7212
chr5146834534146835330E06742778
chr5146835508146836092E06743752
chr5146810915146811075E06819159
chr5146811225146811387E06819469
chr5146815437146815530E06823681
chr5146816327146816393E06824571
chr5146816415146816465E06824659
chr5146816536146816586E06824780
chr5146816646146817166E06824890
chr5146817179146817310E06825423
chr5146818027146818135E06826271
chr5146824792146824846E06833036
chr5146825572146825974E06833816
chr5146826046146826386E06834290
chr5146828279146828348E06836523
chr5146828475146828592E06836719
chr5146828688146828804E06836932
chr5146829057146829128E06837301
chr5146834534146835330E06842778
chr5146835508146836092E06843752
chr5146783197146784544E069-7212
chr5146811225146811387E06919469
chr5146811914146812242E06920158
chr5146816415146816465E06924659
chr5146816536146816586E06924780
chr5146816646146817166E06924890
chr5146817179146817310E06925423
chr5146826046146826386E06934290
chr5146826781146826834E06935025
chr5146826874146826937E06935118
chr5146828279146828348E06936523
chr5146829057146829128E06937301
chr5146834534146835330E06942778
chr5146835508146836092E06943752
chr5146796663146797463E0704907
chr5146797476146797604E0705720
chr5146806324146806431E07014568
chr5146806443146806524E07014687
chr5146807182146807274E07015426
chr5146807431146807661E07015675
chr5146807725146807784E07015969
chr5146808040146808099E07016284
chr5146810357146810633E07018601
chr5146810755146810870E07018999
chr5146810915146811075E07019159
chr5146811225146811387E07019469
chr5146811914146812242E07020158
chr5146813609146813844E07021853
chr5146813895146813981E07022139
chr5146818894146819098E07027138
chr5146820858146821044E07029102
chr5146821201146821306E07029445
chr5146821711146821988E07029955
chr5146822063146822284E07030307
chr5146835508146836092E07043752
chr5146796663146797463E0714907
chr5146797476146797604E0715720
chr5146811914146812242E07120158
chr5146816415146816465E07124659
chr5146816536146816586E07124780
chr5146816646146817166E07124890
chr5146824792146824846E07133036
chr5146825572146825974E07133816
chr5146826046146826386E07134290
chr5146826781146826834E07135025
chr5146834534146835330E07142778
chr5146824792146824846E07233036
chr5146825572146825974E07233816
chr5146826046146826386E07234290
chr5146783197146784544E073-7212
chr5146826046146826386E07334290
chr5146783197146784544E074-7212
chr5146784726146784770E074-6986
chr5146784810146784902E074-6854
chr5146785108146785204E074-6552
chr5146796464146796547E0744708
chr5146796663146797463E0744907
chr5146810755146810870E07418999
chr5146810915146811075E07419159
chr5146811225146811387E07419469
chr5146816327146816393E07424571
chr5146816415146816465E07424659
chr5146816536146816586E07424780
chr5146816646146817166E07424890
chr5146825572146825974E07433816
chr5146826046146826386E07434290
chr5146826781146826834E07435025
chr5146826874146826937E07435118
chr5146834534146835330E07442778
chr5146795234146795501E0813478
chr5146796663146797463E0814907
chr5146797476146797604E0815720
chr5146806324146806431E08114568
chr5146806443146806524E08114687
chr5146807182146807274E08115426
chr5146807431146807661E08115675
chr5146807725146807784E08115969
chr5146808040146808099E08116284
chr5146810357146810633E08118601
chr5146810755146810870E08118999
chr5146810915146811075E08119159
chr5146811225146811387E08119469
chr5146811914146812242E08120158
chr5146813609146813844E08121853
chr5146813895146813981E08122139
chr5146816327146816393E08124571
chr5146816415146816465E08124659
chr5146816536146816586E08124780
chr5146816646146817166E08124890
chr5146817179146817310E08125423
chr5146817646146817973E08125890
chr5146818027146818135E08126271
chr5146824792146824846E08133036
chr5146825572146825974E08133816
chr5146826046146826386E08134290
chr5146826781146826834E08135025
chr5146826874146826937E08135118
chr5146827541146827635E08135785
chr5146828153146828197E08136397
chr5146828279146828348E08136523
chr5146828475146828592E08136719
chr5146828688146828804E08136932
chr5146829057146829128E08137301
chr5146796663146797463E0824907
chr5146797476146797604E0825720
chr5146806324146806431E08214568
chr5146806443146806524E08214687
chr5146807182146807274E08215426
chr5146807431146807661E08215675
chr5146807725146807784E08215969
chr5146808040146808099E08216284
chr5146810357146810633E08218601
chr5146810755146810870E08218999
chr5146810915146811075E08219159
chr5146811225146811387E08219469
chr5146811914146812242E08220158
chr5146813895146813981E08222139
chr5146815437146815530E08223681
chr5146816327146816393E08224571
chr5146816415146816465E08224659
chr5146816536146816586E08224780
chr5146816646146817166E08224890
chr5146817179146817310E08225423
chr5146817646146817973E08225890
chr5146818027146818135E08226271
chr5146818894146819098E08227138
chr5146826781146826834E08235025
chr5146826874146826937E08235118
chr5146827541146827635E08235785
chr5146828153146828197E08236397
chr5146836635146836679E08244879










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5146762356146762650E067-29106
chr5146762765146762885E067-28871
chr5146831090146831210E06739334
chr5146831215146831326E06739459
chr5146831526146831632E06739770
chr5146831679146834476E06739923
chr5146762356146762650E068-29106
chr5146762765146762885E068-28871
chr5146830740146831035E06838984
chr5146831090146831210E06839334
chr5146831526146831632E06839770
chr5146831679146834476E06839923
chr5146762356146762650E069-29106
chr5146762765146762885E069-28871
chr5146831526146831632E06939770
chr5146831679146834476E06939923
chr5146830286146830432E07038530
chr5146830740146831035E07038984
chr5146831090146831210E07039334
chr5146831215146831326E07039459
chr5146831526146831632E07039770
chr5146831679146834476E07039923
chr5146762356146762650E071-29106
chr5146762765146762885E071-28871
chr5146830740146831035E07138984
chr5146831090146831210E07139334
chr5146831215146831326E07139459
chr5146831526146831632E07139770
chr5146831679146834476E07139923
chr5146762356146762650E072-29106
chr5146762765146762885E072-28871
chr5146831526146831632E07239770
chr5146831679146834476E07239923
chr5146762356146762650E073-29106
chr5146762765146762885E073-28871
chr5146830740146831035E07338984
chr5146831090146831210E07339334
chr5146831215146831326E07339459
chr5146831526146831632E07339770
chr5146831679146834476E07339923
chr5146831526146831632E07439770
chr5146831679146834476E07439923
chr5146830286146830432E08138530
chr5146830740146831035E08138984
chr5146831090146831210E08139334
chr5146831215146831326E08139459
chr5146831526146831632E08139770
chr5146831679146834476E08139923
chr5146830286146830432E08238530
chr5146830740146831035E08238984
chr5146831090146831210E08239334
chr5146831215146831326E08239459
chr5146831526146831632E08239770
chr5146831679146834476E08239923