rs12575169

Homo sapiens
A>C
SPON1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0168 (5028/29900,GnomAD)
C=0146 (4267/29118,TOPMED)
C=0107 (537/5008,1000G)
C=0250 (964/3854,ALSPAC)
C=0248 (919/3708,TWINSUK)
chr11:13976261 (GRCh38.p7) (11p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.13976261A>C
GRCh37.p13 chr 11 fix patch HG256_PATCHNW_003871075.1:g.34345A>C
GRCh37.p13 chr 11NC_000011.9:g.13997808A>C

Gene: SPON1, spondin 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SPON1 transcriptNM_006108.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.993C=0.007
1000GenomesAmericanSub694A=0.880C=0.120
1000GenomesEast AsianSub1008A=0.951C=0.049
1000GenomesEuropeSub1006A=0.775C=0.225
1000GenomesGlobalStudy-wide5008A=0.893C=0.107
1000GenomesSouth AsianSub978A=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.750C=0.250
The Genome Aggregation DatabaseAfricanSub8712A=0.960C=0.040
The Genome Aggregation DatabaseAmericanSub838A=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1618A=0.947C=0.053
The Genome Aggregation DatabaseEuropeSub18430A=0.760C=0.239
The Genome Aggregation DatabaseGlobalStudy-wide29900A=0.831C=0.168
The Genome Aggregation DatabaseOtherSub302A=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.853C=0.146
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.752C=0.248
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
rs125751690.000934alcohol dependence21314694

eQTL of rs12575169 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 rs12575169 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.