rs2792224

Homo sapiens
A>G
PCSK5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0214 (6428/29958,GnomAD)
G=0183 (5346/29118,TOPMED)
G=0223 (1115/5008,1000G)
G=0246 (950/3854,ALSPAC)
G=0255 (946/3708,TWINSUK)
chr9:76042814 (GRCh38.p7) (9q21.13)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.76042814A>G
GRCh37.p13 chr 9NC_000009.11:g.78657730A>G
PCSK5 RefSeqGeneNG_029445.1:g.157171A>G

Gene: PCSK5, proprotein convertase subtilisin/kexin type 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PCSK5 transcript variant 1NM_001190482.1:c.N/AIntron Variant
PCSK5 transcript variant 2NM_006200.5:c.N/AIntron Variant
PCSK5 transcript variant 3NR_120409.1:n.N/AIntron Variant
PCSK5 transcript variant X1XM_005252039.3:c.N/AIntron Variant
PCSK5 transcript variant X2XM_011518769.2:c.N/AIntron Variant
PCSK5 transcript variant X3XM_011518770.2:c.N/AGenic Upstream Transcript Variant
PCSK5 transcript variant X4XM_017014800.1:c.N/AGenic Upstream Transcript Variant
PCSK5 transcript variant X5XR_929806.1:n.N/AIntron Variant
PCSK5 transcript variant X6XR_929807.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.933G=0.067
1000GenomesAmericanSub694A=0.670G=0.330
1000GenomesEast AsianSub1008A=0.629G=0.371
1000GenomesEuropeSub1006A=0.732G=0.268
1000GenomesGlobalStudy-wide5008A=0.777G=0.223
1000GenomesSouth AsianSub978A=0.840G=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.754G=0.246
The Genome Aggregation DatabaseAfricanSub8722A=0.904G=0.096
The Genome Aggregation DatabaseAmericanSub838A=0.610G=0.390
The Genome Aggregation DatabaseEast AsianSub1616A=0.671G=0.329
The Genome Aggregation DatabaseEuropeSub18480A=0.747G=0.252
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.785G=0.214
The Genome Aggregation DatabaseOtherSub302A=0.760G=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.816G=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.745G=0.255
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs27922240.000776nicotine smoking19268276

eQTL of rs2792224 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 rs2792224 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 )
chr97864709878647217E068-10513
chr97864731678647501E068-10229
chr97864752578647652E068-10078
chr97863761478637704E071-20026
chr97863771178637761E071-19969
chr97863787978637919E071-19811
chr97863840878638458E071-19272
chr97863846678638506E071-19224
chr97863761478637704E074-20026
chr97863771178637761E074-19969
chr97865305778653265E082-4465
chr97865912478659634E0821394