rs4148646

Homo sapiens
C>G
ABCC8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0291 (8728/29938,GnomAD)
C==0244 (7127/29118,TOPMED)
C==0269 (1347/5008,1000G)
G=0272 (1242/4566,GO-ESP)
C==0368 (1417/3854,ALSPAC)
C==0352 (1306/3708,TWINSUK)
chr11:17393643 (GRCh38.p7) (11p15.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
137 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.17393643C>G
GRCh37.p13 chr 11NC_000011.9:g.17415190C>G
ABCC8 RefSeqGeneNG_008867.1:g.88260G>C
KCNJ11 RefSeqGeneNG_012446.1:g.17G>C

Gene: ABCC8, ATP binding cassette subfamily C member 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCC8 transcript variant 2NM_000352.4:c.N/AIntron Variant
ABCC8 transcript variant 1NM_001287174.1:c.N/AIntron Variant
ABCC8 transcript variant X4XM_011520331.2:c.N/AIntron Variant
ABCC8 transcript variant X1XM_017018197.1:c.N/AIntron Variant
ABCC8 transcript variant X2XM_017018198.1:c.N/AIntron Variant
ABCC8 transcript variant X2XM_017018199.1:c.N/AIntron Variant
ABCC8 transcript variant X5XM_017018200.1:c.N/AIntron Variant
ABCC8 transcript variant X6XM_017018202.1:c.N/AIntron Variant
ABCC8 transcript variant X9XM_017018204.1:c.N/AIntron Variant
ABCC8 transcript variant X7XM_017018201.1:c.N/AGenic Downstream Transcript Variant
ABCC8 transcript variant X10XM_017018203.1:c.N/AGenic Downstream Transcript Variant
ABCC8 transcript variant X6XR_001747945.1:n.N/AIntron Variant
ABCC8 transcript variant X8XR_001747946.1:n.N/AIntron Variant
ABCC8 transcript variant X11XR_001747947.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.041G=0.959
1000GenomesAmericanSub694C=0.300G=0.700
1000GenomesEast AsianSub1008C=0.341G=0.659
1000GenomesEuropeSub1006C=0.350G=0.650
1000GenomesGlobalStudy-wide5008C=0.269G=0.731
1000GenomesSouth AsianSub978C=0.390G=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.368G=0.632
The Genome Aggregation DatabaseAfricanSub8730C=0.082G=0.918
The Genome Aggregation DatabaseAmericanSub836C=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1616C=0.366G=0.634
The Genome Aggregation DatabaseEuropeSub18454C=0.378G=0.621
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.291G=0.708
The Genome Aggregation DatabaseOtherSub302C=0.360G=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.244G=0.755
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.352G=0.648
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs41486469E-06alcohol dependence29460428

eQTL of rs4148646 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:17415190NUCB2ENSG00000070081.11C>G2.5327e-5185490Cerebellum

meQTL of rs4148646 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 )
chr111737234517372458E067-42732
chr111737246417372651E067-42539
chr111740468117406204E067-8986
chr111740635717406416E067-8774
chr111740648417406609E067-8581
chr111740668917406739E067-8451
chr111740692517407462E067-7728
chr111740746317407673E067-7517
chr111740788917408724E067-6466
chr111742794417428114E06712754
chr111742813717428226E06712947
chr111742825917428309E06713069
chr111743442617434543E06719236
chr111743458617434740E06719396
chr111744407417444114E06728884
chr111745216617452217E06736976
chr111745240017452454E06737210
chr111745261617452697E06737426
chr111745270917452810E06737519
chr111745284417452958E06737654
chr111745298417453078E06737794
chr111745322617453470E06738036
chr111745354617453664E06738356
chr111745376817453886E06738578
chr111745413517454199E06738945
chr111740468117406204E068-8986
chr111742685617426983E06811666
chr111742705017427883E06811860
chr111742794417428114E06812754
chr111742813717428226E06812947
chr111742825917428309E06813069
chr111742853717428595E06813347
chr111744407417444114E06828884
chr111744603817446143E06830848
chr111744623017446280E06831040
chr111744657217446647E06831382
chr111745270917452810E06837519
chr111745284417452958E06837654
chr111745298417453078E06837794
chr111740746317407673E069-7517
chr111740788917408724E069-6466
chr111742794417428114E06912754
chr111742813717428226E06912947
chr111743458617434740E06919396
chr111745216617452217E06936976
chr111745240017452454E06937210
chr111737246417372651E071-42539
chr111742685617426983E07111666
chr111742705017427883E07111860
chr111742794417428114E07112754
chr111742813717428226E07112947
chr111742825917428309E07113069
chr111743458617434740E07119396
chr111737998117380054E072-35136
chr111740468117406204E072-8986
chr111740635717406416E072-8774
chr111740648417406609E072-8581
chr111740668917406739E072-8451
chr111740692517407462E072-7728
chr111742705017427883E07211860
chr111742794417428114E07212754
chr111742813717428226E07212947
chr111742825917428309E07213069
chr111743416417434242E07218974
chr111743442617434543E07219236
chr111743458617434740E07219396
chr111743481117435046E07219621
chr111745261617452697E07237426
chr111745354617453664E07238356
chr111745376817453886E07238578
chr111745577317456019E07240583
chr111737821217378320E073-36870
chr111737836417378446E073-36744
chr111740468117406204E073-8986
chr111740635717406416E073-8774
chr111740648417406609E073-8581
chr111740668917406739E073-8451
chr111740692517407462E073-7728
chr111742794417428114E07312754
chr111745025117450301E07335061
chr111745067717450717E07335487
chr111745132817451420E07336138
chr111745196817452034E07336778
chr111745216617452217E07336976
chr111745240017452454E07337210
chr111745261617452697E07337426
chr111745270917452810E07337519
chr111745284417452958E07337654
chr111745298417453078E07337794
chr111745322617453470E07338036
chr111745354617453664E07338356
chr111745376817453886E07338578
chr111745413517454199E07338945
chr111742685617426983E07411666
chr111742705017427883E07411860
chr111742794417428114E07412754
chr111742813717428226E07412947
chr111742825917428309E07413069
chr111740226517402378E081-12812
chr111740240917402716E081-12474
chr111740279417402998E081-12192
chr111740635717406416E081-8774
chr111740648417406609E081-8581
chr111740668917406739E081-8451
chr111740692517407462E081-7728
chr111740746317407673E081-7517
chr111740788917408724E081-6466
chr111740890817409009E081-6181
chr111740907917409147E081-6043
chr111740918917409340E081-5850
chr111743626217436341E08121072
chr111743670017436750E08121510
chr111743693317436973E08121743
chr111743718517437245E08121995
chr111743729917437633E08122109
chr111743812517438224E08122935
chr111743833717438387E08123147
chr111743841617438466E08123226
chr111743860617438676E08123416
chr111745270917452810E08137519
chr111745284417452958E08137654
chr111745298417453078E08137794
chr111745322617453470E08138036
chr111745354617453664E08138356
chr111745376817453886E08138578
chr111745413517454199E08138945
chr111745437817454445E08139188
chr111745445517454505E08139265
chr111745577317456019E08140583
chr111745611817456208E08140928
chr111745630117456374E08141111
chr111745638617456551E08141196
chr111745669717456832E08141507
chr111745354617453664E08238356
chr111745376817453886E08238578
chr111745577317456019E08240583
chr111745611817456208E08240928









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr111737276517373809E067-41381
chr111737392417376614E067-38576
chr111741018317411843E067-3347
chr111737276517373809E068-41381
chr111737392417376614E068-38576
chr111737662217376765E068-38425
chr111741018317411843E068-3347
chr111737276517373809E069-41381
chr111737392417376614E069-38576
chr111741018317411843E069-3347
chr111737276517373809E070-41381
chr111737392417376614E070-38576
chr111741018317411843E070-3347
chr111737276517373809E071-41381
chr111737392417376614E071-38576
chr111741018317411843E071-3347
chr111737276517373809E072-41381
chr111737392417376614E072-38576
chr111741018317411843E072-3347
chr111737276517373809E073-41381
chr111737392417376614E073-38576
chr111741018317411843E073-3347
chr111737276517373809E074-41381
chr111737392417376614E074-38576
chr111741018317411843E074-3347
chr111737392417376614E081-38576
chr111737276517373809E082-41381
chr111737392417376614E082-38576
chr111741018317411843E082-3347