rs852519

Homo sapiens
C>A / C>G / C>T
RNF216 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0268 (8035/29920,GnomAD)
C==0210 (6132/29118,TOPMED)
C==0230 (1150/5008,1000G)
C==0328 (1266/3854,ALSPAC)
C==0313 (1161/3708,TWINSUK)
chr7:5656494 (GRCh38.p7) (7p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.5656494C>A
GRCh38.p7 chr 7NC_000007.14:g.5656494C>G
GRCh38.p7 chr 7NC_000007.14:g.5656494C>T
GRCh37.p13 chr 7NC_000007.13:g.5696125C>A
GRCh37.p13 chr 7NC_000007.13:g.5696125C>G
GRCh37.p13 chr 7NC_000007.13:g.5696125C>T
RNF216 RefSeqGeneNG_029374.1:g.130237G>T
RNF216 RefSeqGeneNG_029374.1:g.130237G>C
RNF216 RefSeqGeneNG_029374.1:g.130237G>A

Gene: RNF216, ring finger protein 216(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RNF216 transcript variant 1NM_207111.3:c.N/AIntron Variant
RNF216 transcript variant 2NM_207116.2:c.N/AIntron Variant
RNF216 transcript variant X1XM_005249785.2:c.N/AIntron Variant
RNF216 transcript variant X5XM_011515436.1:c.N/AIntron Variant
RNF216 transcript variant X2XM_017012363.1:c.N/AIntron Variant
RNF216 transcript variant X3XM_017012364.1:c.N/AIntron Variant
RNF216 transcript variant X4XM_017012365.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.071G=0.002
1000GenomesAmericanSub694C=0.210G=0.00,
1000GenomesEast AsianSub1008C=0.274G=0.000
1000GenomesEuropeSub1006C=0.363G=0.000
1000GenomesGlobalStudy-wide5008C=0.230G=0.000
1000GenomesSouth AsianSub978C=0.270G=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.328T=0.672
The Genome Aggregation DatabaseAfricanSub8716C=0.105G=0.004
The Genome Aggregation DatabaseAmericanSub834C=0.180G=0.00,
The Genome Aggregation DatabaseEast AsianSub1616C=0.262G=0.000
The Genome Aggregation DatabaseEuropeSub18452C=0.350G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.268G=0.001
The Genome Aggregation DatabaseOtherSub302C=0.280G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.210T=0.789
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.313T=0.687
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
rs8525190.000521alcohol dependence21314694

eQTL of rs852519 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 rs852519 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 )
chr7122314292122314342E07013997
chr7122314292122314342E07313997
chr7122314292122314342E08113997
chr7122315113122315206E08114818
chr7122315113122315206E08214818