rs924949

Homo sapiens
G>A
CPNE4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0025 (761/29990,GnomAD)
A=0040 (1192/29118,TOPMED)
A=0025 (126/5008,1000G)
A=0000 (0/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr3:132265544 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.132265544G>A
GRCh37.p13 chr 3NC_000003.11:g.131984388G>A

Gene: CPNE4, copine 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CPNE4 transcript variant 1NM_001289112.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant 3NM_130808.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant 2NM_153429.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X1XM_017005693.1:c.N/AIntron Variant
CPNE4 transcript variant X6XM_011512406.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X4XM_011512407.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X7XM_011512408.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X2XM_017005694.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X6XM_017005695.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X9XM_017005696.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.907A=0.093
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.975A=0.025
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8726G=0.914A=0.086
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18502G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29990G=0.974A=0.025
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.959A=0.040
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs9249495.33E-05alcohol dependence21314694

eQTL of rs924949 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 rs924949 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 )
chr3131961786131961907E067-22481
chr3131941668131942021E071-42367
chr3131941668131942021E082-42367
chr3131942094131942241E082-42147
chr3131942332131942401E082-41987