rs1793257

Homo sapiens
C>A / C>T
OPCML : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0074 (2245/29974,GnomAD)
T=0088 (2566/29118,TOPMED)
T=0091 (454/5008,1000G)
T=0041 (157/3854,ALSPAC)
T=0040 (147/3708,TWINSUK)
chr11:132714224 (GRCh38.p7) (11q25)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
95 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.132714224C>A
GRCh38.p7 chr 11NC_000011.10:g.132714224C>T
GRCh37.p13 chr 11NC_000011.9:g.132584119C>A
GRCh37.p13 chr 11NC_000011.9:g.132584119C>T
OPCML RefSeqGeneNG_012107.1:g.823285G>T
OPCML RefSeqGeneNG_012107.1:g.823285G>A

Gene: OPCML, opioid binding protein/cell adhesion molecule-like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OPCML transcript variant 2NM_001012393.2:c.N/AIntron Variant
OPCML transcript variant 3NM_001319103.1:c.N/AIntron Variant
OPCML transcript variant 4NM_001319104.1:c.N/AIntron Variant
OPCML transcript variant 5NM_001319105.1:c.N/AIntron Variant
OPCML transcript variant 6NM_001319106.1:c.N/AIntron Variant
OPCML transcript variant 1NM_002545.4:c.N/AIntron Variant
OPCML transcript variant X1XM_006718846.2:c.N/AIntron Variant
OPCML transcript variant X2XM_011542856.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.807T=0.193
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=0.942T=0.058
1000GenomesEuropeSub1006C=0.959T=0.041
1000GenomesGlobalStudy-wide5008C=0.909T=0.091
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.959T=0.041
The Genome Aggregation DatabaseAfricanSub8708C=0.832A=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.960A=0.00,
The Genome Aggregation DatabaseEast AsianSub1620C=0.932A=0.000
The Genome Aggregation DatabaseEuropeSub18506C=0.965A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.925A=0.000
The Genome Aggregation DatabaseOtherSub302C=0.960A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.911T=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.960T=0.040
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs17932577E-06alcohol dependence23942779

eQTL of rs1793257 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 rs1793257 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 )
chr11115851042115851417E067-10215
chr11115851456115851572E067-10060
chr11115851719115851923E067-9709
chr11115851956115852061E067-9571
chr11115852400115852483E067-9149
chr11115811837115813233E068-48399
chr11115851042115851417E068-10215
chr11115851456115851572E068-10060
chr11115851719115851923E068-9709
chr11115851956115852061E068-9571
chr11115852400115852483E068-9149
chr11115852602115852714E068-8918
chr11115811676115811726E069-49906
chr11115811837115813233E069-48399
chr11115829775115830367E069-31265
chr11115845544115845853E069-15779
chr11115851042115851417E069-10215
chr11115860042115860146E069-1486
chr11115823012115823066E070-38566
chr11115826395115826455E070-35177
chr11115826622115826672E070-34960
chr11115826741115826853E070-34779
chr11115827090115827251E070-34381
chr11115827264115827352E070-34280
chr11115828207115828285E070-33347
chr11115828500115828550E070-33082
chr11115828605115828665E070-32967
chr11115829078115829454E070-32178
chr11115829464115829596E070-32036
chr11115830409115830666E070-30966
chr11115830978115831028E070-30604
chr11115831033115831149E070-30483
chr11115834987115835159E070-26473
chr11115836435115837379E070-24253
chr11115845440115845500E070-16132
chr11115845544115845853E070-15779
chr11115847286115847434E070-14198
chr11115851042115851417E070-10215
chr11115851456115851572E070-10060
chr11115851719115851923E070-9709
chr11115851956115852061E070-9571
chr11115852400115852483E070-9149
chr11115852602115852714E070-8918
chr11115860042115860146E070-1486
chr11115860217115860297E070-1335
chr11115860325115861156E070-476
chr11115851956115852061E071-9571
chr11115852400115852483E071-9149
chr11115852602115852714E071-8918
chr11115851042115851417E072-10215
chr11115852400115852483E072-9149
chr11115852602115852714E072-8918
chr11115852400115852483E073-9149
chr11115852602115852714E073-8918
chr11115853185115853248E073-8384
chr11115853349115853393E073-8239
chr11115836435115837379E074-24253
chr11115851042115851417E074-10215
chr11115851456115851572E074-10060
chr11115851719115851923E074-9709
chr11115851956115852061E074-9571
chr11115852400115852483E074-9149
chr11115852602115852714E074-8918
chr11115853185115853248E074-8384
chr11115853349115853393E074-8239
chr11115829078115829454E081-32178
chr11115829464115829596E081-32036
chr11115829775115830367E081-31265
chr11115830409115830666E081-30966
chr11115836435115837379E081-24253
chr11115845440115845500E081-16132
chr11115847286115847434E081-14198
chr11115850665115850726E081-10906
chr11115851042115851417E081-10215
chr11115851456115851572E081-10060
chr11115851719115851923E081-9709
chr11115851956115852061E081-9571
chr11115852400115852483E081-9149
chr11115852602115852714E081-8918
chr11115860042115860146E081-1486
chr11115860217115860297E081-1335
chr11115860325115861156E081-476
chr11115826622115826672E082-34960
chr11115826741115826853E082-34779
chr11115827090115827251E082-34381
chr11115828605115828665E082-32967
chr11115829078115829454E082-32178
chr11115829464115829596E082-32036
chr11115829775115830367E082-31265
chr11115830409115830666E082-30966
chr11115834987115835159E082-26473
chr11115850665115850726E082-10906
chr11115851042115851417E082-10215
chr11115851456115851572E082-10060
chr11115860325115861156E082-476










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11115845948115846844E067-14788
chr11115845948115846844E068-14788
chr11115845948115846844E069-14788
chr11115845948115846844E070-14788
chr11115845948115846844E071-14788
chr11115845948115846844E072-14788
chr11115845948115846844E073-14788
chr11115845948115846844E074-14788
chr11115845948115846844E082-14788