rs2024683

Homo sapiens
A>G
C20orf187 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0235 (7052/29946,GnomAD)
G=0221 (6459/29118,TOPMED)
G=0318 (1592/5008,1000G)
G=0254 (979/3854,ALSPAC)
G=0240 (891/3708,TWINSUK)
chr20:10863192 (GRCh38.p7) (20p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.10863192A>G
GRCh37.p13 chr 20NC_000020.10:g.10843840A>G

Gene: C20orf187, uncharacterized C20orf187(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C20orf187 transcript variant X1XR_001754494.1:n....XR_001754494.1:n.2275A>GA>GNon Coding Transcript Variant
C20orf187 transcript variant X2XR_937256.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.816G=0.184
1000GenomesAmericanSub694A=0.830G=0.170
1000GenomesEast AsianSub1008A=0.471G=0.529
1000GenomesEuropeSub1006A=0.755G=0.245
1000GenomesGlobalStudy-wide5008A=0.682G=0.318
1000GenomesSouth AsianSub978A=0.540G=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.746G=0.254
The Genome Aggregation DatabaseAfricanSub8710A=0.827G=0.173
The Genome Aggregation DatabaseAmericanSub838A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1612A=0.491G=0.509
The Genome Aggregation DatabaseEuropeSub18484A=0.755G=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.764G=0.235
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.778G=0.221
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.760G=0.240
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20246830.00079alcohol dependence20201924

eQTL of rs2024683 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 rs2024683 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 )
chr201079385510794332E070-49508
chr201084553510845686E0701695
chr201084574910845832E0701909
chr201084593610846025E0702096
chr201084603210846130E0702192
chr201084629310846376E0702453
chr201088274310882836E07038903
chr201088290710883785E07039067
chr201088381610883928E07039976
chr201088403910884150E07040199
chr201088419410884353E07040354
chr201088381610883928E08139976
chr201088274310882836E08238903
chr201088290710883785E08239067