rs7421283

Homo sapiens
C>T
LOC101928278 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0328 (9820/29926,GnomAD)
T=0319 (9294/29118,TOPMED)
T=0344 (1723/5008,1000G)
T=0322 (1241/3854,ALSPAC)
T=0319 (1182/3708,TWINSUK)
chr2:216776095 (GRCh38.p7) (2q35)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.216776095C>T
GRCh37.p13 chr 2NC_000002.11:g.217640818C>T

Gene: LOC101928278, uncharacterized LOC101928278(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928278 transcript variant X1XR_001739169.1:n.N/AIntron Variant
LOC101928278 transcript variant X2XR_001739170.1:n.N/AGenic Upstream Transcript Variant
LOC101928278 transcript variant X3XR_001739171.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.651T=0.349
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.639T=0.361
1000GenomesEuropeSub1006C=0.691T=0.309
1000GenomesGlobalStudy-wide5008C=0.656T=0.344
1000GenomesSouth AsianSub978C=0.590T=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.678T=0.322
The Genome Aggregation DatabaseAfricanSub8710C=0.640T=0.360
The Genome Aggregation DatabaseAmericanSub838C=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1614C=0.626T=0.374
The Genome Aggregation DatabaseEuropeSub18462C=0.686T=0.313
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.671T=0.328
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.680T=0.319
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.681T=0.319
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs74212830.00029alcohol dependence21314694

eQTL of rs7421283 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 rs7421283 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 )
chr2217664486217664573E06723668
chr2217666992217667149E06726174
chr2217667191217667269E06726373
chr2217667474217667902E06726656
chr2217667909217668103E06727091
chr2217667474217667902E06826656
chr2217667909217668103E06827091
chr2217666992217667149E06926174
chr2217667191217667269E06926373
chr2217667474217667902E06926656
chr2217667909217668103E06927091
chr2217668200217668289E06927382
chr2217668340217668859E06927522
chr2217599760217600301E070-40517
chr2217600479217600551E070-40267
chr2217653834217654464E07013016
chr2217667191217667269E07126373
chr2217667474217667902E07126656
chr2217667909217668103E07127091
chr2217668200217668289E07127382
chr2217668340217668859E07127522
chr2217667474217667902E07226656
chr2217667909217668103E07227091
chr2217668200217668289E07227382
chr2217668340217668859E07227522
chr2217669364217669882E07228546
chr2217660912217661110E07320094
chr2217669364217669882E07328546
chr2217667474217667902E07426656
chr2217667909217668103E07427091
chr2217668200217668289E07427382
chr2217668340217668859E07427522
chr2217673691217673741E08132873
chr2217674101217674330E08133283