rs879151

Homo sapiens
C>A
SRL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0255 (7654/29932,GnomAD)
C==0248 (7230/29118,TOPMED)
C==0288 (1444/5008,1000G)
C==0191 (738/3854,ALSPAC)
C==0188 (698/3708,TWINSUK)
chr16:4200914 (GRCh38.p7) (16p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.4200914C>A
GRCh37.p13 chr 16NC_000016.9:g.4250915C>A

Gene: SRL, sarcalumenin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SRL transcript variant 1NM_001098814.1:c.N/AIntron Variant
SRL transcript variant 2NM_001323667.1:c.N/AIntron Variant
SRL transcript variant 3NM_001323668.1:c.N/AIntron Variant
SRL transcript variant X1XM_017023527.1:c.N/AIntron Variant
SRL transcript variant X2XM_017023528.1:c.N/AIntron Variant
SRL transcript variant X3XM_017023529.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.352A=0.648
1000GenomesAmericanSub694C=0.140A=0.860
1000GenomesEast AsianSub1008C=0.504A=0.496
1000GenomesEuropeSub1006C=0.181A=0.819
1000GenomesGlobalStudy-wide5008C=0.288A=0.712
1000GenomesSouth AsianSub978C=0.190A=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.191A=0.809
The Genome Aggregation DatabaseAfricanSub8708C=0.340A=0.660
The Genome Aggregation DatabaseAmericanSub836C=0.140A=0.860
The Genome Aggregation DatabaseEast AsianSub1612C=0.529A=0.471
The Genome Aggregation DatabaseEuropeSub18474C=0.198A=0.801
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.255A=0.744
The Genome Aggregation DatabaseOtherSub302C=0.190A=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.248A=0.751
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.188A=0.812
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
rs8791510.000283alcohol dependence21314694

eQTL of rs879151 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 rs879151 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 )
chr1642348894235132E067-15783
chr1642348894235132E068-15783
chr1642501274250730E068-185
chr1642348894235132E069-15783
chr1642573384257542E0706423
chr1642575904257644E0706675
chr1642576834257733E0706768
chr1642674774268692E07016562
chr1642891204289650E07038205
chr1642674774268692E07116562
chr1642674774268692E07216562
chr1642348894235132E073-15783
chr1642501274250730E074-185
chr1642674774268692E07416562
chr1642326564232810E081-18105
chr1642348894235132E081-15783
chr1642674774268692E08116562
chr1642326564232810E082-18105
chr1642674774268692E08216562










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1642328784233048E067-17867
chr1642330794234550E067-16365
chr1642328784233048E068-17867
chr1642330794234550E068-16365
chr1642330794234550E069-16365
chr1642330794234550E071-16365
chr1642330794234550E072-16365
chr1642330794234550E073-16365
chr1642330794234550E074-16365
chr1642330794234550E082-16365