rs12651147

Homo sapiens
C>T
PDGFC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0021 (639/29970,GnomAD)
T=0019 (571/29118,TOPMED)
T=0063 (318/5008,1000G)
T=0009 (35/3854,ALSPAC)
T=0008 (31/3708,TWINSUK)
chr4:156791807 (GRCh38.p7) (4q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.156791807C>T
GRCh37.p13 chr 4NC_000004.11:g.157712959C>T

Gene: PDGFC, platelet derived growth factor C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDGFC transcript variant 1NM_016205.2:c.N/AIntron Variant
PDGFC transcript variant 2NR_036641.1:n.N/AIntron Variant
PDGFC transcript variant X1XM_011532124.2:c.N/AIntron Variant
PDGFC transcript variant X2XM_017008455.1:c.N/AIntron Variant
PDGFC transcript variant X3XM_017008456.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.971T=0.029
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=0.884T=0.116
1000GenomesEuropeSub1006C=0.995T=0.005
1000GenomesGlobalStudy-wide5008C=0.937T=0.063
1000GenomesSouth AsianSub978C=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.991T=0.009
The Genome Aggregation DatabaseAfricanSub8722C=0.980T=0.020
The Genome Aggregation DatabaseAmericanSub836C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1614C=0.879T=0.121
The Genome Aggregation DatabaseEuropeSub18496C=0.985T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.978T=0.021
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.980T=0.019
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.992T=0.008
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
rs126511470.000939alcohol dependence21314694

eQTL of rs12651147 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 rs12651147 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 )
chr4157674865157674928E067-38031
chr4157689319157689457E067-23502
chr4157691020157691159E067-21800
chr4157691436157691633E067-21326
chr4157674865157674928E068-38031
chr4157684743157685108E068-27851
chr4157685209157685286E068-27673
chr4157685350157685588E068-27371
chr4157686139157686276E068-26683
chr4157691020157691159E068-21800
chr4157691436157691633E068-21326
chr4157694919157695097E068-17862
chr4157695219157695430E068-17529
chr4157697084157697226E068-15733
chr4157697544157697858E068-15101
chr4157724250157724519E06811291
chr4157674865157674928E069-38031
chr4157689319157689457E069-23502
chr4157693312157693404E069-19555
chr4157691020157691159E070-21800
chr4157684743157685108E071-27851
chr4157685209157685286E071-27673
chr4157685350157685588E071-27371
chr4157689319157689457E071-23502
chr4157691020157691159E071-21800
chr4157691436157691633E071-21326
chr4157674865157674928E072-38031
chr4157689319157689457E072-23502
chr4157691020157691159E072-21800
chr4157691436157691633E072-21326
chr4157691020157691159E073-21800
chr4157695219157695430E073-17529
chr4157695455157696056E073-16903
chr4157674865157674928E074-38031
chr4157689319157689457E074-23502
chr4157691020157691159E074-21800
chr4157694919157695097E074-17862
chr4157695219157695430E074-17529
chr4157695455157696056E074-16903
chr4157724250157724519E07411291
chr4157691436157691633E081-21326
chr4157692295157693018E081-19941
chr4157695219157695430E081-17529
chr4157695455157696056E081-16903
chr4157710716157710769E081-2190
chr4157712111157712328E081-631
chr4157735384157735470E08122425
chr4157735502157735637E08122543
chr4157736015157736239E08123056
chr4157737061157737560E08124102
chr4157742168157742480E08129209
chr4157684007157684317E082-28642
chr4157691020157691159E082-21800
chr4157691436157691633E082-21326
chr4157693312157693404E082-19555
chr4157712111157712328E082-631
chr4157736015157736239E08223056
chr4157737061157737560E08224102