rs2247977

Homo sapiens
G>A
PCDH15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0055 (1662/29950,GnomAD)
G==0061 (1799/29118,TOPMED)
G==0072 (359/5008,1000G)
G==0052 (200/3854,ALSPAC)
G==0050 (186/3708,TWINSUK)
chr10:55213052 (GRCh38.p7) (10q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.55213052G>A
GRCh37.p13 chr 10NC_000010.10:g.56972812G>A

Gene: PCDH15, protocadherin-related 15(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PCDH15 transcript variant ANM_001142763.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant BNM_001142764.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant DNM_001142765.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant ENM_001142766.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant FNM_001142767.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant GNM_001142768.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant INM_001142769.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant JNM_001142770.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant KNM_001142771.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant LNM_001142772.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant HNM_001142773.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant CNM_033056.3:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant X5XM_017016573.1:c.N/AIntron Variant
PCDH15 transcript variant X3XM_017016571.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant X4XM_017016572.1:c.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant X1XR_001747192.1:n.N/AGenic Upstream Transcript Variant
PCDH15 transcript variant X2XR_001747193.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.067A=0.933
1000GenomesAmericanSub694G=0.040A=0.960
1000GenomesEast AsianSub1008G=0.110A=0.890
1000GenomesEuropeSub1006G=0.059A=0.941
1000GenomesGlobalStudy-wide5008G=0.072A=0.928
1000GenomesSouth AsianSub978G=0.080A=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.052A=0.948
The Genome Aggregation DatabaseAfricanSub8706G=0.069A=0.931
The Genome Aggregation DatabaseAmericanSub838G=0.050A=0.950
The Genome Aggregation DatabaseEast AsianSub1614G=0.082A=0.918
The Genome Aggregation DatabaseEuropeSub18490G=0.047A=0.952
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.055A=0.944
The Genome Aggregation DatabaseOtherSub302G=0.070A=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.061A=0.938
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.050A=0.950
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs22479776.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2247977 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 rs2247977 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.