rs11888554

Homo sapiens
C>A / C>T
PARD3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0202 (6071/29928,GnomAD)
A=0201 (5863/29118,TOPMED)
A=0215 (1079/5008,1000G)
chr2:205231812 (GRCh38.p7) (2q33.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.205231812C>A
GRCh38.p7 chr 2NC_000002.12:g.205231812C>T
GRCh37.p13 chr 2NC_000002.11:g.206096536C>A
GRCh37.p13 chr 2NC_000002.11:g.206096536C>T

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 X8XM_017003289.1: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 X12XM_017003293.1:c.N/AIntron Variant
PARD3B transcript variant X14XM_017003294.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744A=0.256
1000GenomesAmericanSub694C=0.850A=0.150
1000GenomesEast AsianSub1008C=0.681A=0.319
1000GenomesEuropeSub1006C=0.841A=0.159
1000GenomesGlobalStudy-wide5008C=0.785A=0.215
1000GenomesSouth AsianSub978C=0.840A=0.160
The Genome Aggregation DatabaseAfricanSub8704C=0.742T=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.860T=0.00,
The Genome Aggregation DatabaseEast AsianSub1618C=0.683T=0.000
The Genome Aggregation DatabaseEuropeSub18466C=0.829T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.797T=0.000
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.798A=0.201
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
rs118885540.000307nicotine smoking19268276

eQTL of rs11888554 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 rs11888554 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 )
chr27165101871651221E067-6400
chr27169465771694753E06737036
chr27164987971650251E069-7370
chr27165101871651221E069-6400
chr27168248371682852E06924862
chr27162856571628702E071-28919
chr27164987971650251E071-7370
chr27165101871651221E071-6400
chr27164987971650251E072-7370
chr27165101871651221E072-6400
chr27165101871651221E073-6400
chr27168219871682334E07324577
chr27168248371682852E07324862
chr27168291171683683E07325290
chr27164987971650251E074-7370
chr27165101871651221E074-6400
chr27165101871651221E082-6400
chr27168011571680203E08222494







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr27161653771616605E067-41016
chr27161666771616794E067-40827
chr27161695271617070E067-40551
chr27168041071682031E06722789
chr27169325371694425E06735632
chr27169448471694601E06736863
chr27168041071682031E06822789
chr27169325371694425E06835632
chr27169448471694601E06836863
chr27161695271617070E069-40551
chr27168041071682031E06922789
chr27169312971693233E06935508
chr27169325371694425E06935632
chr27161653771616605E071-41016
chr27161666771616794E071-40827
chr27161695271617070E071-40551
chr27169325371694425E07135632
chr27169448471694601E07136863
chr27169325371694425E07235632
chr27168041071682031E07322789
chr27169325371694425E07335632
chr27169448471694601E07336863
chr27161653771616605E074-41016
chr27161666771616794E074-40827
chr27161695271617070E074-40551
chr27169312971693233E07435508
chr27169325371694425E07435632
chr27169448471694601E07436863