rs4797283

Homo sapiens
C>T
LOC105371973 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0228 (6834/29942,GnomAD)
C==0298 (8698/29118,TOPMED)
C==0289 (1447/5008,1000G)
C==0088 (340/3854,ALSPAC)
C==0089 (330/3708,TWINSUK)
chr18:7249742 (GRCh38.p7) (18p11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.7249742C>T
GRCh37.p13 chr 18NC_000018.9:g.7249740C>T

Gene: LOC105371973, uncharacterized LOC105371973(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371973 transcriptXR_935118.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.605T=0.395
1000GenomesAmericanSub694C=0.130T=0.870
1000GenomesEast AsianSub1008C=0.296T=0.704
1000GenomesEuropeSub1006C=0.093T=0.907
1000GenomesGlobalStudy-wide5008C=0.289T=0.711
1000GenomesSouth AsianSub978C=0.170T=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.088T=0.912
The Genome Aggregation DatabaseAfricanSub8702C=0.534T=0.466
The Genome Aggregation DatabaseAmericanSub838C=0.080T=0.920
The Genome Aggregation DatabaseEast AsianSub1610C=0.293T=0.707
The Genome Aggregation DatabaseEuropeSub18490C=0.087T=0.912
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.228T=0.771
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.298T=0.701
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.089T=0.911
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
rs47972830.0008alcohol dependence20201924

eQTL of rs4797283 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 rs4797283 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 )
chr1872048547204951E067-44789
chr1872051157205165E067-44575
chr1872052367205358E067-44382
chr1872053947205705E067-44035
chr1872595187259964E0679778
chr1872601057260406E06710365
chr1872060687206260E068-43480
chr1872062827206674E068-43066
chr1872067127206894E068-42846
chr1872080787208128E068-41612
chr1872052367205358E069-44382
chr1872053947205705E069-44035
chr1872060687206260E069-43480
chr1872073227207771E069-41969
chr1872079617208072E069-41668
chr1872080787208128E069-41612
chr1872081837208391E069-41349
chr1872595187259964E0699778
chr1872723027274030E06922562
chr1872021087202600E070-47140
chr1872060687206260E070-43480
chr1872062827206674E070-43066
chr1872592287259407E0709488
chr1872595187259964E0709778
chr1872601057260406E07010365
chr1872900927290593E07040352
chr1872062827206674E071-43066
chr1872067127206894E071-42846
chr1872595187259964E0719778
chr1872723027274030E07122562
chr1872051157205165E072-44575
chr1872052367205358E072-44382
chr1872053947205705E072-44035
chr1872067127206894E072-42846
chr1872073227207771E072-41969
chr1872079617208072E072-41668
chr1872080787208128E072-41612
chr1872081837208391E072-41349
chr1872721437272293E07222403
chr1872723027274030E07222562
chr1872048547204951E073-44789
chr1872051157205165E073-44575
chr1872052367205358E073-44382
chr1872053947205705E073-44035
chr1872060687206260E073-43480
chr1872062827206674E073-43066
chr1872067127206894E073-42846
chr1872073227207771E073-41969
chr1872595187259964E0739778
chr1872601057260406E07310365
chr1872595187259964E0749778
chr1872723027274030E07422562
chr1872740697274145E07424329
chr1872021087202600E081-47140
chr1872048547204951E081-44789
chr1872051157205165E081-44575
chr1872052367205358E081-44382
chr1872053947205705E081-44035
chr1872058417205956E081-43784
chr1872060687206260E081-43480
chr1872062827206674E081-43066
chr1872067127206894E081-42846
chr1872481657248268E081-1472
chr1872482717248395E081-1345
chr1872485227248596E081-1144
chr1872486737248966E081-774
chr1872489897250366E0810
chr1872592287259407E0819488
chr1872595187259964E0819778
chr1872030847203140E082-46600
chr1872031907203240E082-46500
chr1872048547204951E082-44789
chr1872051157205165E082-44575
chr1872052367205358E082-44382
chr1872053947205705E082-44035
chr1872058417205956E082-43784
chr1872060687206260E082-43480
chr1872062827206674E082-43066
chr1872067127206894E082-42846
chr1872486737248966E082-774
chr1872489897250366E0820