rs2959930

Homo sapiens
G>A
CELF6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0236 (7015/29666,GnomAD)
G==0233 (6789/29118,TOPMED)
G==0277 (1385/5008,1000G)
G==0217 (835/3854,ALSPAC)
G==0233 (864/3708,TWINSUK)
chr15:72306273 (GRCh38.p7) (15q23)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.72306273G>A
GRCh37.p13 chr 15NC_000015.9:g.72598614G>A

Gene: CELF6, CUGBP, Elav-like family member 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CELF6 transcript variant 2NM_001172684.1:c.N/AIntron Variant
CELF6 transcript variant 1NM_052840.4:c.N/AIntron Variant
CELF6 transcript variant 3NM_001172685.1:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.256A=0.744
1000GenomesAmericanSub694G=0.260A=0.740
1000GenomesEast AsianSub1008G=0.405A=0.595
1000GenomesEuropeSub1006G=0.198A=0.802
1000GenomesGlobalStudy-wide5008G=0.277A=0.723
1000GenomesSouth AsianSub978G=0.270A=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.217A=0.783
The Genome Aggregation DatabaseAfricanSub8638G=0.260A=0.740
The Genome Aggregation DatabaseAmericanSub836G=0.270A=0.730
The Genome Aggregation DatabaseEast AsianSub1610G=0.443A=0.557
The Genome Aggregation DatabaseEuropeSub18282G=0.205A=0.794
The Genome Aggregation DatabaseGlobalStudy-wide29666G=0.236A=0.763
The Genome Aggregation DatabaseOtherSub300G=0.220A=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.233A=0.766
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.233A=0.767
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
rs29599300.000891alcohol dependence21314694

eQTL of rs2959930 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 rs2959930 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 )
chr157256268672562748E067-35866
chr157256296872563022E067-35592
chr157256317172563211E067-35403
chr157256331372563523E067-35091
chr157256603272566103E067-32511
chr157256615272566528E067-32086
chr157259983472599967E0671220
chr157256268672562748E068-35866
chr157256296872563022E068-35592
chr157256317172563211E068-35403
chr157256331372563523E068-35091
chr157256358472563704E068-34910
chr157260001772600071E0681403
chr157260640272606452E0687788
chr157256268672562748E069-35866
chr157256296872563022E069-35592
chr157256317172563211E069-35403
chr157256331372563523E069-35091
chr157256358472563704E069-34910
chr157263282572632979E06934211
chr157256268672562748E070-35866
chr157256296872563022E070-35592
chr157256317172563211E070-35403
chr157256331372563523E070-35091
chr157256358472563704E070-34910
chr157259983472599967E0701220
chr157260001772600071E0701403
chr157260015972600223E0701545
chr157260804472608094E0709430
chr157260841672608584E0709802
chr157261379872613848E07015184
chr157256296872563022E071-35592
chr157256317172563211E071-35403
chr157256331372563523E071-35091
chr157256358472563704E071-34910
chr157256603272566103E071-32511
chr157256615272566528E071-32086
chr157256331372563523E072-35091
chr157256358472563704E072-34910
chr157256268672562748E073-35866
chr157257302572573141E073-25473
chr157259983472599967E0731220
chr157256331372563523E074-35091
chr157256358472563704E074-34910
chr157256296872563022E081-35592
chr157256317172563211E081-35403
chr157256331372563523E081-35091
chr157256358472563704E081-34910
chr157259754972597604E081-1010
chr157259767972598155E081-459
chr157259983472599967E0811220
chr157260001772600071E0811403
chr157260015972600223E0811545
chr157260027372600399E0811659
chr157260804472608094E0819430
chr157260841672608584E0819802
chr157259754972597604E082-1010
chr157259767972598155E082-459
chr157259983472599967E0821220
chr157260001772600071E0821403
chr157260015972600223E0821545
chr157260804472608094E0829430
chr157260841672608584E0829802
chr157261379872613848E08215184










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157256407172566010E067-32604
chr157261155472611604E06712940
chr157261163472611844E06713020
chr157261186672613390E06713252
chr157256407172566010E068-32604
chr157261186672613390E06813252
chr157256407172566010E069-32604
chr157261163472611844E06913020
chr157261186672613390E06913252
chr157256407172566010E070-32604
chr157261155472611604E07012940
chr157261163472611844E07013020
chr157261186672613390E07013252
chr157256407172566010E071-32604
chr157261155472611604E07112940
chr157261163472611844E07113020
chr157261186672613390E07113252
chr157256407172566010E072-32604
chr157261155472611604E07212940
chr157261163472611844E07213020
chr157261186672613390E07213252
chr157256407172566010E073-32604
chr157261155472611604E07312940
chr157261163472611844E07313020
chr157261186672613390E07313252
chr157256407172566010E074-32604
chr157261163472611844E07413020
chr157261186672613390E07413252
chr157256407172566010E081-32604
chr157261155472611604E08112940
chr157261163472611844E08113020
chr157261186672613390E08113252
chr157256407172566010E082-32604
chr157261155472611604E08212940
chr157261163472611844E08213020
chr157261186672613390E08213252