rs4148478

Homo sapiens
A>G
ABCC4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0104 (3139/29972,GnomAD)
G=0116 (3382/29118,TOPMED)
G=0152 (762/5008,1000G)
G=0071 (272/3854,ALSPAC)
G=0060 (222/3708,TWINSUK)
chr13:95197426 (GRCh38.p7) (13q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.95197426A>G
GRCh37.p13 chr 13NC_000013.10:g.95849680A>G

Gene: ABCC4, ATP binding cassette subfamily C member 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCC4 transcript variant 2NM_001105515.2:c.N/AIntron Variant
ABCC4 transcript variant 3NM_001301829.1:c.N/AIntron Variant
ABCC4 transcript variant 4NM_001301830.1:c.N/AIntron Variant
ABCC4 transcript variant 1NM_005845.4:c.N/AIntron Variant
ABCC4 transcript variant X2XM_005254025.2:c.N/AIntron Variant
ABCC4 transcript variant X1XM_017020319.1:c.N/AIntron Variant
ABCC4 transcript variant X3XM_017020320.1:c.N/AIntron Variant
ABCC4 transcript variant X5XM_017020322.1:c.N/AIntron Variant
ABCC4 transcript variant X4XM_017020321.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.787G=0.213
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.813G=0.187
1000GenomesEuropeSub1006A=0.917G=0.083
1000GenomesGlobalStudy-wide5008A=0.848G=0.152
1000GenomesSouth AsianSub978A=0.830G=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.929G=0.071
The Genome Aggregation DatabaseAfricanSub8718A=0.823G=0.177
The Genome Aggregation DatabaseAmericanSub838A=0.910G=0.090
The Genome Aggregation DatabaseEast AsianSub1614A=0.840G=0.160
The Genome Aggregation DatabaseEuropeSub18500A=0.933G=0.066
The Genome Aggregation DatabaseGlobalStudy-wide29972A=0.895G=0.104
The Genome Aggregation DatabaseOtherSub302A=0.890G=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.883G=0.116
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.940G=0.060
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
rs41484780.000757alcohol dependence21314694

eQTL of rs4148478 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 rs4148478 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 )
chr139583302795833322E067-16358
chr139583353795833613E067-16067
chr139583383695833925E067-15755
chr139583394195834162E067-15518
chr139584578295846103E068-3577
chr139584614495846250E068-3430
chr139588773495887821E06838054
chr139588794595888111E06838265
chr139588811895888179E06838438
chr139588825895888550E06838578
chr139584506095845373E069-4307
chr139584572295845780E069-3900
chr139584578295846103E069-3577
chr139584614495846250E069-3430
chr139584628195846360E069-3320
chr139584641095846460E069-3220
chr139584649595846671E069-3009
chr139584679495846834E069-2846
chr139589797395898142E06948293
chr139589837995898459E06948699
chr139580592195807180E070-42500
chr139580788095808389E070-41291
chr139580857095808722E070-40958
chr139584402195844755E070-4925
chr139584614495846250E070-3430
chr139584628195846360E070-3320
chr139584753895847671E070-2009
chr139584772595847781E070-1899
chr139584572295845780E071-3900
chr139584578295846103E071-3577
chr139584614495846250E071-3430
chr139584628195846360E071-3320
chr139584641095846460E071-3220
chr139584649595846671E071-3009
chr139584679495846834E071-2846
chr139584578295846103E072-3577
chr139584614495846250E072-3430
chr139584628195846360E072-3320
chr139584614495846250E073-3430
chr139584628195846360E073-3320
chr139584641095846460E073-3220
chr139584614495846250E074-3430
chr139584628195846360E074-3320
chr139584641095846460E074-3220
chr139584649595846671E074-3009
chr139584679495846834E074-2846