rs12953980

Homo sapiens
A>G
PARD6G-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0179 (5226/29118,TOPMED)
G=0147 (738/5008,1000G)
G=0210 (810/3854,ALSPAC)
G=0218 (809/3708,TWINSUK)
chr18:80150182 (GRCh38.p7) (18q23)
AD
GWASdb2
1   publication(s)
See rs on genome
158 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.80150182A>G
GRCh37.p13 chr 18NC_000018.9:g.77908065A>G

Gene: PARD6G-AS1, PARD6G antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PARD6G-AS1 transcript variant 1NR_028339.1:n.N/AIntron Variant
PARD6G-AS1 transcript variant 3NR_028340.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.821G=0.179
1000GenomesAmericanSub694A=0.850G=0.150
1000GenomesEast AsianSub1008A=0.956G=0.044
1000GenomesEuropeSub1006A=0.788G=0.212
1000GenomesGlobalStudy-wide5008A=0.853G=0.147
1000GenomesSouth AsianSub978A=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.820G=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.782G=0.218
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs129539800.000607alcohol dependence24277619

eQTL of rs12953980 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr18:77908065AC139100.3ENSG00000267251.1A>G1.2860e-7-33498Cerebellum
Chr18:77908065AC139100.3ENSG00000267251.1A>G6.9224e-7-33498Frontal_Cortex_BA9
Chr18:77908065AC139100.3ENSG00000267251.1A>G1.4184e-7-33498Cortex
Chr18:77908065AC139100.3ENSG00000267251.1A>G2.9467e-5-33498Cerebellar_Hemisphere
Chr18:77908065AC139100.3ENSG00000267251.1A>G2.2471e-7-33498Caudate_basal_ganglia
Chr18:77908065AC139100.3ENSG00000267251.1A>G1.2901e-7-33498Anterior_cingulate_cortex
Chr18:77908065AC139100.3ENSG00000267251.1A>G7.4842e-7-33498Amygdala

meQTL of rs12953980 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 )
chr187786155077862761E067-45304
chr187786916777869280E067-38785
chr187787047277871023E067-37042
chr187787127677871330E067-36735
chr187787143777871487E067-36578
chr187787162177871744E067-36321
chr187787179377871840E067-36225
chr187787190777871961E067-36104
chr187787258377872633E067-35432
chr187787267577872785E067-35280
chr187787289877872948E067-35117
chr187787302977873183E067-34882
chr187787332377873441E067-34624
chr187787909277879181E067-28884
chr187788555677885701E067-22364
chr187788578277885937E067-22128
chr187788599377886153E067-21912
chr187793932677939401E06731261
chr187795441977955770E06746354
chr187786899177869076E068-38989
chr187786916777869280E068-38785
chr187787047277871023E068-37042
chr187787162177871744E068-36321
chr187787289877872948E068-35117
chr187787660077876691E068-31374
chr187787702777877308E068-30757
chr187787732877877535E068-30530
chr187787769977877983E068-30082
chr187788820077888281E068-19784
chr187788832777888377E068-19688
chr187788855677888606E068-19459
chr187788869077888741E068-19324
chr187788878977888839E068-19226
chr187788896077889098E068-18967
chr187788913177889200E068-18865
chr187790773477907901E068-164
chr187791536077916036E0687295
chr187791605377916311E0687988
chr187791637777916530E0688312
chr187795432277954406E06846257
chr187786916777869280E069-38785
chr187787127677871330E069-36735
chr187787267577872785E069-35280
chr187787702777877308E069-30757
chr187787732877877535E069-30530
chr187787769977877983E069-30082
chr187791536077916036E0697295
chr187791605377916311E0697988
chr187791637777916530E0698312
chr187795577477955907E06947709
chr187786899177869076E070-38989
chr187787922177879276E070-28789
chr187786899177869076E071-38989
chr187786916777869280E071-38785
chr187787047277871023E071-37042
chr187787127677871330E071-36735
chr187787143777871487E071-36578
chr187787162177871744E071-36321
chr187787179377871840E071-36225
chr187787660077876691E071-31374
chr187787732877877535E071-30530
chr187787769977877983E071-30082
chr187788555677885701E071-22364
chr187788578277885937E071-22128
chr187788599377886153E071-21912
chr187791605377916311E0717988
chr187791637777916530E0718312
chr187795577477955907E07147709
chr187786116577861431E072-46634
chr187786155077862761E072-45304
chr187787047277871023E072-37042
chr187787127677871330E072-36735
chr187787143777871487E072-36578
chr187787162177871744E072-36321
chr187787179377871840E072-36225
chr187787190777871961E072-36104
chr187787258377872633E072-35432
chr187787267577872785E072-35280
chr187787289877872948E072-35117
chr187787302977873183E072-34882
chr187787332377873441E072-34624
chr187787702777877308E072-30757
chr187787732877877535E072-30530
chr187791605377916311E0727988
chr187791637777916530E0728312
chr187793430177935203E07226236
chr187793520777935313E07227142
chr187793901277939062E07230947
chr187793979977939976E07231734
chr187794000277940136E07231937
chr187794015377940197E07232088
chr187794699177947229E07238926
chr187795577477955907E07247709
chr187786916777869280E073-38785
chr187787047277871023E073-37042
chr187787127677871330E073-36735
chr187787143777871487E073-36578
chr187787162177871744E073-36321
chr187787179377871840E073-36225
chr187787258377872633E073-35432
chr187787267577872785E073-35280
chr187787289877872948E073-35117
chr187787302977873183E073-34882
chr187790840077908526E073335
chr187791605377916311E0737988
chr187791637777916530E0738312
chr187793979977939976E07331734
chr187794000277940136E07331937
chr187794015377940197E07332088
chr187794020877940258E07332143
chr187794037577940520E07332310
chr187786899177869076E074-38989
chr187787258377872633E074-35432
chr187787267577872785E074-35280
chr187787289877872948E074-35117
chr187787302977873183E074-34882
chr187787332377873441E074-34624
chr187787366677873757E074-34308
chr187787660077876691E074-31374
chr187787702777877308E074-30757
chr187787732877877535E074-30530
chr187787769977877983E074-30082
chr187788766877887749E074-20316
chr187788786077887970E074-20095
chr187791605377916311E0747988
chr187791637777916530E0748312
chr187795577477955907E07447709
chr187786899177869076E081-38989
chr187786916777869280E081-38785
chr187787047277871023E081-37042
chr187793415777934253E08126092
chr187793430177935203E08126236
chr187793520777935313E08127142
chr187793543777935512E08127372
chr187793570877935820E08127643
chr187793590177935951E08127836
chr187793596977936048E08127904
chr187793607177936131E08128006
chr187793613577936190E08128070
chr187793630977936401E08128244
chr187793649777936632E08128432
chr187786899177869076E082-38989
chr187786916777869280E082-38785
chr187790452177904577E082-3488
chr187793430177935203E08226236
chr187793520777935313E08227142
chr187793543777935512E08227372
chr187793570877935820E08227643
chr187793590177935951E08227836
chr187793596977936048E08227904
chr187793607177936131E08228006
chr187793613577936190E08228070
chr187793630977936401E08228244
chr187793649777936632E08228432
chr187793932677939401E08231261
chr187793979977939976E08231734
chr187794000277940136E08231937
chr187794015377940197E08232088










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr187786542277868139E067-39926
chr187790506677906510E067-1555
chr187790656077906761E067-1304
chr187786542277868139E068-39926
chr187790506677906510E068-1555
chr187790656077906761E068-1304
chr187791752777918137E0689462
chr187786542277868139E069-39926
chr187790506677906510E069-1555
chr187790656077906761E069-1304
chr187791752777918137E0699462
chr187786542277868139E070-39926
chr187790506677906510E070-1555
chr187790656077906761E070-1304
chr187786542277868139E071-39926
chr187790506677906510E071-1555
chr187790656077906761E071-1304
chr187791752777918137E0719462
chr187786542277868139E072-39926
chr187790506677906510E072-1555
chr187790656077906761E072-1304
chr187786542277868139E073-39926
chr187790506677906510E073-1555
chr187790656077906761E073-1304
chr187786542277868139E074-39926
chr187790506677906510E074-1555
chr187790506677906510E081-1555
chr187790656077906761E081-1304
chr187786542277868139E082-39926
chr187790506677906510E082-1555
chr187790656077906761E082-1304