rs2082622

Homo sapiens
C>G
PARD3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0180 (5402/29912,GnomAD)
G=0169 (4924/29118,TOPMED)
G=0168 (839/5008,1000G)
G=0245 (944/3854,ALSPAC)
G=0233 (865/3708,TWINSUK)
chr2:205039410 (GRCh38.p7) (2q33.3)
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.205039410C>G
GRCh37.p13 chr 2NC_000002.11:g.205904133C>G

Gene: PARD3B, par-3 family cell polarity regulator beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PARD3B transcript variant 1NM_001302769.1:c.N/AIntron Variant
PARD3B transcript variant 3NM_057177.6:c.N/AIntron Variant
PARD3B transcript variant 2NM_152526.5:c.N/AIntron Variant
PARD3B transcript variant 4NM_205863.3:c.N/AIntron Variant
PARD3B transcript variant X1XM_011510552.2:c.N/AIntron Variant
PARD3B transcript variant X13XM_011510553.2:c.N/AIntron Variant
PARD3B transcript variant X2XM_017003283.1:c.N/AIntron Variant
PARD3B transcript variant X3XM_017003284.1:c.N/AIntron Variant
PARD3B transcript variant X4XM_017003285.1:c.N/AIntron Variant
PARD3B transcript variant X5XM_017003286.1:c.N/AIntron Variant
PARD3B transcript variant X6XM_017003287.1:c.N/AIntron Variant
PARD3B transcript variant X7XM_017003288.1:c.N/AIntron Variant
PARD3B transcript variant X9XM_017003290.1:c.N/AIntron Variant
PARD3B transcript variant X10XM_017003291.1:c.N/AIntron Variant
PARD3B transcript variant X11XM_017003292.1:c.N/AIntron Variant
PARD3B transcript variant X14XM_017003294.1:c.N/AIntron Variant
PARD3B transcript variant X8XM_017003289.1:c.N/AGenic Upstream Transcript Variant
PARD3B transcript variant X12XM_017003293.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.974G=0.026
1000GenomesAmericanSub694C=0.840G=0.160
1000GenomesEast AsianSub1008C=0.631G=0.369
1000GenomesEuropeSub1006C=0.795G=0.205
1000GenomesGlobalStudy-wide5008C=0.832G=0.168
1000GenomesSouth AsianSub978C=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.755G=0.245
The Genome Aggregation DatabaseAfricanSub8726C=0.941G=0.059
The Genome Aggregation DatabaseAmericanSub834C=0.840G=0.160
The Genome Aggregation DatabaseEast AsianSub1604C=0.619G=0.381
The Genome Aggregation DatabaseEuropeSub18446C=0.777G=0.222
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.819G=0.180
The Genome Aggregation DatabaseOtherSub302C=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.830G=0.169
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.767G=0.233
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
rs20826220.000489nicotine smoking19268276

eQTL of rs2082622 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 rs2082622 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 )
chr2205882688205882879E067-21254
chr2205888314205888384E067-15749
chr2205890482205890571E067-13562
chr2205890656205890814E067-13319
chr2205877605205877729E068-26404
chr2205882688205882879E068-21254
chr2205890656205890814E068-13319
chr2205951054205951247E06846921
chr2205951534205951604E06847401
chr2205888314205888384E069-15749
chr2205890656205890814E069-13319
chr2205908064205908456E0693931
chr2205887007205887086E071-17047
chr2205888314205888384E071-15749
chr2205951054205951247E07146921
chr2205951534205951604E07147401
chr2205882688205882879E072-21254
chr2205887562205888110E072-16023
chr2205890656205890814E072-13319
chr2205890341205890404E073-13729
chr2205890482205890571E073-13562
chr2205875003205875069E074-29064
chr2205882688205882879E074-21254
chr2205888314205888384E074-15749
chr2205898809205898869E074-5264
chr2205898887205899042E074-5091
chr2205908064205908456E0743931
chr2205951054205951247E07446921
chr2205951534205951604E07447401
chr2205890341205890404E081-13729
chr2205890482205890571E081-13562
chr2205887562205888110E082-16023