rs4145648

Homo sapiens
T>C
LOC105379107 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0123 (3702/29968,GnomAD)
C=0103 (3020/29118,TOPMED)
C=0225 (1129/5008,1000G)
C=0123 (473/3854,ALSPAC)
C=0113 (420/3708,TWINSUK)
chr5:103840533 (GRCh38.p7) (5q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.103840533T>C
GRCh37.p13 chr 5NC_000005.9:g.103176234T>C

Gene: LOC105379107, uncharacterized LOC105379107(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379107 transcript variant X2XR_001742831.1:n.N/AIntron Variant
LOC105379107 transcript variant X1XR_001742830.1:n.N/AGenic Upstream Transcript Variant
LOC105379107 transcript variant X3XR_001742832.1:n.N/AGenic Upstream Transcript Variant
LOC105379107 transcript variant X4XR_001742833.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.964C=0.036
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.401C=0.599
1000GenomesEuropeSub1006T=0.867C=0.133
1000GenomesGlobalStudy-wide5008T=0.775C=0.225
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.877C=0.123
The Genome Aggregation DatabaseAfricanSub8724T=0.937C=0.063
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1606T=0.427C=0.573
The Genome Aggregation DatabaseEuropeSub18498T=0.888C=0.111
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.876C=0.123
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.896C=0.103
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.887C=0.113
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs41456489.68E-05alcohol consumption23743675

eQTL of rs4145648 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 rs4145648 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 )
chr5103144277103144662E069-31572
chr5103144277103144662E071-31572
chr5103216616103216727E08140382