rs2345955

Homo sapiens
C>T
PRKCE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0270 (8072/29792,GnomAD)
C==0313 (9124/29116,TOPMED)
C==0297 (1489/5008,1000G)
C==0207 (797/3854,ALSPAC)
C==0201 (747/3708,TWINSUK)
chr2:46093741 (GRCh38.p7) (2p21)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.46093741C>T
GRCh37.p13 chr 2NC_000002.11:g.46320880C>T

Gene: PRKCE, protein kinase C epsilon(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCE transcriptNM_005400.2:c.N/AIntron Variant
PRKCE transcript variant X1XM_005264428.1:c.N/AIntron Variant
PRKCE transcript variant X19XM_006712050.3:c.N/AIntron Variant
PRKCE transcript variant X3XM_011532971.2:c.N/AIntron Variant
PRKCE transcript variant X4XM_011532975.2:c.N/AIntron Variant
PRKCE transcript variant X6XM_011532978.1:c.N/AIntron Variant
PRKCE transcript variant X10XM_011532980.2:c.N/AIntron Variant
PRKCE transcript variant X12XM_011532981.2:c.N/AIntron Variant
PRKCE transcript variant X13XM_011532982.1:c.N/AIntron Variant
PRKCE transcript variant X20XM_011532983.2:c.N/AIntron Variant
PRKCE transcript variant X2XM_017004486.1:c.N/AIntron Variant
PRKCE transcript variant X5XM_017004487.1:c.N/AIntron Variant
PRKCE transcript variant X7XM_017004488.1:c.N/AIntron Variant
PRKCE transcript variant X8XM_017004489.1:c.N/AIntron Variant
PRKCE transcript variant X9XM_017004490.1:c.N/AIntron Variant
PRKCE transcript variant X11XM_017004491.1:c.N/AIntron Variant
PRKCE transcript variant X14XM_005264431.3:c.N/AGenic Downstream Transcript Variant
PRKCE transcript variant X15XM_017004492.1:c.N/AGenic Downstream Transcript Variant
PRKCE transcript variant X19XR_001738846.1:n.N/AGenic Downstream Transcript Variant
PRKCE transcript variant X18XR_939695.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.528T=0.472
1000GenomesAmericanSub694C=0.250T=0.750
1000GenomesEast AsianSub1008C=0.155T=0.845
1000GenomesEuropeSub1006C=0.191T=0.809
1000GenomesGlobalStudy-wide5008C=0.297T=0.703
1000GenomesSouth AsianSub978C=0.280T=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.207T=0.793
The Genome Aggregation DatabaseAfricanSub8648C=0.475T=0.525
The Genome Aggregation DatabaseAmericanSub836C=0.160T=0.840
The Genome Aggregation DatabaseEast AsianSub1608C=0.159T=0.841
The Genome Aggregation DatabaseEuropeSub18400C=0.189T=0.810
The Genome Aggregation DatabaseGlobalStudy-wide29792C=0.270T=0.729
The Genome Aggregation DatabaseOtherSub300C=0.290T=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.313T=0.686
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.201T=0.799
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
rs23459550.00082nicotine smoking19268276

eQTL of rs2345955 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:46320880SRBD1ENSG00000068784.8C>T6.4017e-3481576Nucleus_accumbens_basal_ganglia

meQTL of rs2345955 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 )
chr24629012146290514E067-30366
chr24636982246369992E06748942
chr24637011046370281E06749230
chr24637038146370741E06749501
chr24628527446285324E068-35556
chr24630040446301187E068-19693
chr24632573846326159E0684858
chr24636982246369992E06848942
chr24637011046370281E06849230
chr24637038146370741E06849501
chr24629012146290514E069-30366
chr24629056646290710E069-30170
chr24632471346325421E0693833
chr24637011046370281E06949230
chr24637038146370741E06949501
chr24628951846289654E071-31226
chr24628971546289775E071-31105
chr24629012146290514E071-30366
chr24629056646290710E071-30170
chr24630040446301187E071-19693
chr24634234246342472E07121462
chr24634610346346943E07125223
chr24636960846369760E07148728
chr24636982246369992E07148942
chr24637011046370281E07149230
chr24637038146370741E07149501
chr24628527446285324E072-35556
chr24628544346285524E072-35356
chr24636960846369760E07248728
chr24636982246369992E07248942
chr24637011046370281E07249230
chr24637038146370741E07249501
chr24628527446285324E073-35556
chr24628544346285524E073-35356
chr24629964746299942E073-20938
chr24630040446301187E073-19693
chr24636157046362099E07340690
chr24637011046370281E07349230
chr24637038146370741E07349501
chr24628527446285324E074-35556
chr24628544346285524E074-35356
chr24629012146290514E074-30366
chr24631039146310501E074-10379
chr24632573846326159E0744858
chr24632645746326511E0745577
chr24634234246342472E07421462
chr24636960846369760E07448728
chr24636982246369992E07448942
chr24637011046370281E07449230
chr24637038146370741E07449501
chr24634351646343733E08122636
chr24634373846343920E08122858
chr24634397146344048E08123091
chr24635687346356923E08135993