rs7984728

Homo sapiens
C>G / C>T
LOC105370217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0163 (4877/29796,GnomAD)
G=0142 (709/5008,1000G)
G=0161 (621/3854,ALSPAC)
G=0177 (658/3708,TWINSUK)
chr13:57475100 (GRCh38.p7) (13q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.57475100C>G
GRCh38.p7 chr 13NC_000013.11:g.57475100C>T
GRCh37.p13 chr 13NC_000013.10:g.58049234C>G
GRCh37.p13 chr 13NC_000013.10:g.58049234C>T

Gene: LOC105370217, uncharacterized LOC105370217(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370217 transcriptXR_941983.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.868G=0.132
1000GenomesAmericanSub694C=0.930G=0.070
1000GenomesEast AsianSub1008C=0.785G=0.215
1000GenomesEuropeSub1006C=0.832G=0.168
1000GenomesGlobalStudy-wide5008C=0.858G=0.142
1000GenomesSouth AsianSub978C=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.839G=0.161
The Genome Aggregation DatabaseAfricanSub8696C=0.874G=0.126
The Genome Aggregation DatabaseAmericanSub832C=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1562C=0.790G=0.210
The Genome Aggregation DatabaseEuropeSub18404C=0.818G=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29796C=0.836G=0.163
The Genome Aggregation DatabaseOtherSub302C=0.850G=0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.823G=0.177
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs79847285.47E-06alcohol dependence (age at onset)24962325

eQTL of rs7984728 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 rs7984728 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 )
chr135954627559546374E070-14311
chr135954678159546939E070-13746
chr135954694659547026E070-13659
chr135954724559547295E070-13390
chr135954747859547708E070-12977
chr135956772059567855E0707035
chr135956799059568526E0707305
chr135956894059569193E0708255