rs8034838

Homo sapiens
G>C
CGNL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0232 (6914/29790,GnomAD)
C=0224 (1123/5008,1000G)
C=0273 (1052/3854,ALSPAC)
C=0263 (974/3708,TWINSUK)
chr15:57441989 (GRCh38.p7) (15q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
194 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.57441989G>C
GRCh37.p13 chr 15NC_000015.9:g.57734187G>C
CGNL1 RefSeqGeneNG_030584.1:g.70485G>C

Gene: CGNL1, cingulin-like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CGNL1 transcript variant 1NM_001252335.1:c.N/AIntron Variant
CGNL1 transcript variant 2NM_032866.4:c.N/AIntron Variant
CGNL1 transcript variant X4XM_005254726.3:c.N/AIntron Variant
CGNL1 transcript variant X2XM_005254727.4:c.N/AIntron Variant
CGNL1 transcript variant X4XM_011522120.1:c.N/AIntron Variant
CGNL1 transcript variant X5XM_011522121.1:c.N/AIntron Variant
CGNL1 transcript variant X1XM_017022685.1:c.N/AIntron Variant
CGNL1 transcript variant X6XM_017022686.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.833C=0.167
1000GenomesAmericanSub694G=0.810C=0.190
1000GenomesEast AsianSub1008G=0.742C=0.258
1000GenomesEuropeSub1006G=0.724C=0.276
1000GenomesGlobalStudy-wide5008G=0.776C=0.224
1000GenomesSouth AsianSub978G=0.760C=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.727C=0.273
The Genome Aggregation DatabaseAfricanSub8668G=0.825C=0.175
The Genome Aggregation DatabaseAmericanSub830G=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1610G=0.706C=0.294
The Genome Aggregation DatabaseEuropeSub18380G=0.746C=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29790G=0.767C=0.232
The Genome Aggregation DatabaseOtherSub302G=0.740C=0.260
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.737C=0.263
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
rs80348380.000349alcohol dependence21314694

eQTL of rs8034838 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 rs8034838 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 )
chr155772020957720529E067-13658
chr155772056257720769E067-13418
chr155772079657720871E067-13316
chr155772088457720999E067-13188
chr155772118357721259E067-12928
chr155772129557721371E067-12816
chr155772423757725116E067-9071
chr155773161857731978E067-2209
chr155773198057732078E067-2109
chr155773235957732446E067-1741
chr155773247257732755E067-1432
chr155768747057687873E068-46314
chr155768796557688058E068-46129
chr155770860357708802E068-25385
chr155770885657708906E068-25281
chr155770899557709217E068-24970
chr155771360157713644E068-20543
chr155771372357713773E068-20414
chr155771382257714115E068-20072
chr155771418857714371E068-19816
chr155771443957714821E068-19366
chr155771919057719433E068-14754
chr155771948757720159E068-14028
chr155772020957720529E068-13658
chr155772056257720769E068-13418
chr155772079657720871E068-13316
chr155772088457720999E068-13188
chr155772118357721259E068-12928
chr155772129557721371E068-12816
chr155772141957721501E068-12686
chr155772164257721753E068-12434
chr155772423757725116E068-9071
chr155773198057732078E068-2109
chr155773235957732446E068-1741
chr155773247257732755E068-1432
chr155773293857733538E068-649
chr155775440357754487E06820216
chr155775455157754810E06820364
chr155775483457754958E06820647
chr155775529657755336E06821109
chr155775551457755584E06821327
chr155775565957755781E06821472
chr155775581757755912E06821630
chr155775596857756031E06821781
chr155776980157770784E06835614
chr155768747057687873E069-46314
chr155768796557688058E069-46129
chr155771895157719132E069-15055
chr155771919057719433E069-14754
chr155771948757720159E069-14028
chr155772020957720529E069-13658
chr155772056257720769E069-13418
chr155772079657720871E069-13316
chr155772088457720999E069-13188
chr155772118357721259E069-12928
chr155772129557721371E069-12816
chr155772141957721501E069-12686
chr155772164257721753E069-12434
chr155772343157724174E069-10013
chr155772423757725116E069-9071
chr155773235957732446E069-1741
chr155773247257732755E069-1432
chr155773734157737868E0693154
chr155773787757737971E0693690
chr155775424657754296E06920059
chr155775440357754487E06920216
chr155775455157754810E06920364
chr155775483457754958E06920647
chr155775529657755336E06921109
chr155775551457755584E06921327
chr155775565957755781E06921472
chr155775581757755912E06921630
chr155775596857756031E06921781
chr155775646457756514E06922277
chr155772020957720529E070-13658
chr155772056257720769E070-13418
chr155772079657720871E070-13316
chr155772088457720999E070-13188
chr155772343157724174E070-10013
chr155772423757725116E070-9071
chr155772513457725258E070-8929
chr155772531657725686E070-8501
chr155772576457725878E070-8309
chr155772590957726021E070-8166
chr155772604057726214E070-7973
chr155775440357754487E07020216
chr155775455157754810E07020364
chr155775483457754958E07020647
chr155775529657755336E07021109
chr155775551457755584E07021327
chr155775565957755781E07021472
chr155775581757755912E07021630
chr155775596857756031E07021781
chr155769663657696686E071-37501
chr155769696257697044E071-37143
chr155769730557697410E071-36777
chr155771602157716405E071-17782
chr155771662057716680E071-17507
chr155771675357716856E071-17331
chr155771919057719433E071-14754
chr155771948757720159E071-14028
chr155772020957720529E071-13658
chr155772056257720769E071-13418
chr155772079657720871E071-13316
chr155772088457720999E071-13188
chr155772118357721259E071-12928
chr155772129557721371E071-12816
chr155772141957721501E071-12686
chr155772164257721753E071-12434
chr155772343157724174E071-10013
chr155772423757725116E071-9071
chr155772513457725258E071-8929
chr155773161857731978E071-2209
chr155773198057732078E071-2109
chr155773235957732446E071-1741
chr155773247257732755E071-1432
chr155775529657755336E07121109
chr155775581757755912E07121630
chr155775596857756031E07121781
chr155771360157713644E072-20543
chr155771372357713773E072-20414
chr155771382257714115E072-20072
chr155771418857714371E072-19816
chr155771443957714821E072-19366
chr155771919057719433E072-14754
chr155771948757720159E072-14028
chr155772020957720529E072-13658
chr155772056257720769E072-13418
chr155772079657720871E072-13316
chr155772088457720999E072-13188
chr155772118357721259E072-12928
chr155772129557721371E072-12816
chr155772141957721501E072-12686
chr155772164257721753E072-12434
chr155772423757725116E072-9071
chr155773734157737868E0723154
chr155773787757737971E0723690
chr155769508257696496E073-37691
chr155770860357708802E073-25385
chr155770885657708906E073-25281
chr155770899557709217E073-24970
chr155771948757720159E073-14028
chr155772020957720529E073-13658
chr155772056257720769E073-13418
chr155772079657720871E073-13316
chr155772088457720999E073-13188
chr155772118357721259E073-12928
chr155772129557721371E073-12816
chr155772141957721501E073-12686
chr155772423757725116E073-9071
chr155773247257732755E073-1432
chr155773787757737971E0733690
chr155768466957684812E074-49375
chr155771382257714115E074-20072
chr155771418857714371E074-19816
chr155771501657715066E074-19121
chr155771509557715179E074-19008
chr155771948757720159E074-14028
chr155772020957720529E074-13658
chr155772056257720769E074-13418
chr155772079657720871E074-13316
chr155772088457720999E074-13188
chr155772118357721259E074-12928
chr155772129557721371E074-12816
chr155772141957721501E074-12686
chr155772343157724174E074-10013
chr155773235957732446E074-1741
chr155773247257732755E074-1432
chr155773734157737868E0743154
chr155773787757737971E0743690
chr155775393457754044E07419747
chr155775408257754168E07419895
chr155775424657754296E07420059
chr155775440357754487E07420216
chr155775455157754810E07420364
chr155775483457754958E07420647
chr155775529657755336E07421109
chr155775551457755584E07421327
chr155775565957755781E07421472
chr155775581757755912E07421630
chr155775596857756031E07421781
chr155772343157724174E081-10013
chr155772423757725116E081-9071
chr155775393457754044E08219747
chr155775408257754168E08219895
chr155775424657754296E08220059
chr155775440357754487E08220216
chr155775455157754810E08220364
chr155775483457754958E08220647
chr155775529657755336E08221109
chr155775551457755584E08221327
chr155775565957755781E08221472
chr155775581757755912E08221630
chr155775596857756031E08221781