rs4148358

Homo sapiens
C>T
ABCC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0233 (6971/29896,GnomAD)
T=0254 (7414/29118,TOPMED)
T=0261 (1308/5008,1000G)
T=0221 (850/3854,ALSPAC)
T=0246 (912/3708,TWINSUK)
chr16:16093318 (GRCh38.p7) (16p13.11)
AD
GWASdb2
2   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.16093318C>T
GRCh37.p13 chr 16NC_000016.9:g.16187175C>T
ABCC1 RefSeqGeneNG_028268.1:g.148742C>T
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1NT_187607.1:g.1751176T>C

Gene: ABCC1, ATP binding cassette subfamily C member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCC1 transcriptNM_004996.3:c.N/AIntron Variant
ABCC1 transcript variant X2XM_011522497.1:c.N/AIntron Variant
ABCC1 transcript variant X5XM_011522498.2:c.N/AIntron Variant
ABCC1 transcript variant X1XM_017023237.1:c.N/AIntron Variant
ABCC1 transcript variant X3XM_017023238.1:c.N/AIntron Variant
ABCC1 transcript variant X4XM_017023239.1:c.N/AIntron Variant
ABCC1 transcript variant X6XM_017023240.1:c.N/AIntron Variant
ABCC1 transcript variant X7XM_017023241.1:c.N/AIntron Variant
ABCC1 transcript variant X8XM_017023242.1:c.N/AIntron Variant
ABCC1 transcript variant X9XM_017023243.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.774T=0.226
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.689T=0.311
1000GenomesEuropeSub1006C=0.762T=0.238
1000GenomesGlobalStudy-wide5008C=0.739T=0.261
1000GenomesSouth AsianSub978C=0.650T=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.779T=0.221
The Genome Aggregation DatabaseAfricanSub8686C=0.765T=0.235
The Genome Aggregation DatabaseAmericanSub836C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1610C=0.679T=0.321
The Genome Aggregation DatabaseEuropeSub18462C=0.773T=0.226
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.766T=0.233
The Genome Aggregation DatabaseOtherSub302C=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.745T=0.254
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.754T=0.246
PMID Title Author Journal
19456320A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.Ma DAnn Hum Genet
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
rs41483580.000489alcohol consumption (maxi-drinks)24277619

eQTL of rs4148358 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 rs4148358 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 )
chr161618673416186803E070-372
chr161618697616187053E070-122
chr161618705416187830E0700
chr161616550616166035E071-21140
chr161621359216213698E07126417
chr161618981416189922E0742639
chr161618996516190005E0742790
chr161619008516190854E0742910