rs7589114

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

PARD3B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0312 (9347/29936,GnomAD)
T=0300 (8743/29118,TOPMED)
T=0174 (873/5008,1000G)
T=0360 (1386/3854,ALSPAC)
T=0357 (1322/3708,TWINSUK)

Position: chr2:204911060 (GRCh38.p7) (2q33.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 12 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.204911060C>T
GRCh37.p13 chr 2	NC_000002.11:g.205775783C>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
PARD3B transcript variant 1	NM_001302769.1:c.	N/A	Intron Variant
PARD3B transcript variant 3	NM_057177.6:c.	N/A	Intron Variant
PARD3B transcript variant 2	NM_152526.5:c.	N/A	Intron Variant
PARD3B transcript variant 4	NM_205863.3:c.	N/A	Intron Variant
PARD3B transcript variant X1	XM_011510552.2:c.	N/A	Intron Variant
PARD3B transcript variant X13	XM_011510553.2:c.	N/A	Intron Variant
PARD3B transcript variant X4	XM_017003285.1:c.	N/A	Intron Variant
PARD3B transcript variant X6	XM_017003287.1:c.	N/A	Intron Variant
PARD3B transcript variant X7	XM_017003288.1:c.	N/A	Intron Variant
PARD3B transcript variant X9	XM_017003290.1:c.	N/A	Intron Variant
PARD3B transcript variant X10	XM_017003291.1:c.	N/A	Intron Variant
PARD3B transcript variant X11	XM_017003292.1:c.	N/A	Intron Variant
PARD3B transcript variant X14	XM_017003294.1:c.	N/A	Intron Variant
PARD3B transcript variant X3	XM_017003284.1:c.	N/A	5 Prime UTR Variant
PARD3B transcript variant X5	XM_017003286.1:c.	N/A	5 Prime UTR Variant
PARD3B transcript variant X2	XM_017003283.1:c.	N/A	Genic Upstream Transcript Variant
PARD3B transcript variant X8	XM_017003289.1:c.	N/A	Genic Upstream Transcript Variant
PARD3B transcript variant X12	XM_017003293.1:c.	N/A	Genic Upstream Transcript Variant

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 )
chr2	205734869	205734991	E067	-40792
chr2	205746558	205746763	E068	-29020
chr2	205823195	205823282	E068	47412
chr2	205746351	205746497	E070	-29286
chr2	205746558	205746763	E070	-29020
chr2	205769889	205770018	E070	-5765
chr2	205770531	205770619	E070	-5164
chr2	205771063	205771355	E070	-4428
chr2	205740784	205741452	E081	-34331
chr2	205746351	205746497	E081	-29286
chr2	205746558	205746763	E081	-29020
chr2	205798799	205798863	E082	23016