rs6445276

Organism: Homo sapiens

Alleles: T>A / T>C

Gene : Feature

CADPS : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0345 (10339/29890,GnomAD)
T==0403 (11759/29118,TOPMED)
T==0388 (1943/5008,1000G)

Position: chr3:62519585 (GRCh38.p7) (3p14.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 80 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.62519585T>A
GRCh38.p7 chr 3	NC_000003.12:g.62519585T>C
GRCh37.p13 chr 3	NC_000003.11:g.62505260T>A
GRCh37.p13 chr 3	NC_000003.11:g.62505260T>C

Gene: CADPS, Ca2+ dependent secretion activator(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CADPS transcript variant 1	NM_003716.3:c.	N/A	Intron Variant
CADPS transcript variant 3	NM_183393.2:c.	N/A	Intron Variant
CADPS transcript variant 2	NM_183394.2:c.	N/A	Intron Variant
CADPS transcript variant X45	XM_006713378.2:c.	N/A	Intron Variant
CADPS transcript variant X2	XM_011534177.1:c.	N/A	Intron Variant
CADPS transcript variant X5	XM_011534178.1:c.	N/A	Intron Variant
CADPS transcript variant X6	XM_011534180.1:c.	N/A	Intron Variant
CADPS transcript variant X8	XM_011534182.1:c.	N/A	Intron Variant
CADPS transcript variant X11	XM_011534183.1:c.	N/A	Intron Variant
CADPS transcript variant X13	XM_011534189.1:c.	N/A	Intron Variant
CADPS transcript variant X18	XM_011534191.2:c.	N/A	Intron Variant
CADPS transcript variant X20	XM_011534192.1:c.	N/A	Intron Variant
CADPS transcript variant X21	XM_011534193.1:c.	N/A	Intron Variant
CADPS transcript variant X23	XM_011534194.2:c.	N/A	Intron Variant
CADPS transcript variant X27	XM_011534195.1:c.	N/A	Intron Variant
CADPS transcript variant X28	XM_011534196.1:c.	N/A	Intron Variant
CADPS transcript variant X37	XM_011534197.2:c.	N/A	Intron Variant
CADPS transcript variant X43	XM_011534198.2:c.	N/A	Intron Variant
CADPS transcript variant X44	XM_011534199.2:c.	N/A	Intron Variant
CADPS transcript variant X46	XM_011534200.2:c.	N/A	Intron Variant
CADPS transcript variant X47	XM_011534202.2:c.	N/A	Intron Variant
CADPS transcript variant X48	XM_011534203.1:c.	N/A	Intron Variant
CADPS transcript variant X1	XM_017007358.1:c.	N/A	Intron Variant
CADPS transcript variant X3	XM_017007359.1:c.	N/A	Intron Variant
CADPS transcript variant X4	XM_017007360.1:c.	N/A	Intron Variant
CADPS transcript variant X7	XM_017007361.1:c.	N/A	Intron Variant
CADPS transcript variant X9	XM_017007362.1:c.	N/A	Intron Variant
CADPS transcript variant X10	XM_017007363.1:c.	N/A	Intron Variant
CADPS transcript variant X12	XM_017007364.1:c.	N/A	Intron Variant
CADPS transcript variant X14	XM_017007365.1:c.	N/A	Intron Variant
CADPS transcript variant X15	XM_017007366.1:c.	N/A	Intron Variant
CADPS transcript variant X16	XM_017007367.1:c.	N/A	Intron Variant
CADPS transcript variant X18	XM_017007368.1:c.	N/A	Intron Variant
CADPS transcript variant X19	XM_017007369.1:c.	N/A	Intron Variant
CADPS transcript variant X23	XM_017007370.1:c.	N/A	Intron Variant
CADPS transcript variant X24	XM_017007371.1:c.	N/A	Intron Variant
CADPS transcript variant X27	XM_017007372.1:c.	N/A	Intron Variant
CADPS transcript variant X26	XM_017007373.1:c.	N/A	Intron Variant
CADPS transcript variant X29	XM_017007374.1:c.	N/A	Intron Variant
CADPS transcript variant X32	XM_017007375.1:c.	N/A	Intron Variant
CADPS transcript variant X31	XM_017007376.1:c.	N/A	Intron Variant
CADPS transcript variant X32	XM_017007377.1:c.	N/A	Intron Variant
CADPS transcript variant X35	XM_017007378.1:c.	N/A	Intron Variant
CADPS transcript variant X34	XM_017007379.1:c.	N/A	Intron Variant
CADPS transcript variant X36	XM_017007380.1:c.	N/A	Intron Variant
CADPS transcript variant X37	XM_017007381.1:c.	N/A	Intron Variant
CADPS transcript variant X38	XM_017007382.1:c.	N/A	Intron Variant
CADPS transcript variant X39	XM_017007383.1:c.	N/A	Intron Variant
CADPS transcript variant X40	XM_017007384.1:c.	N/A	Intron Variant
CADPS transcript variant X41	XM_017007385.1:c.	N/A	Intron Variant
CADPS transcript variant X42	XM_017007386.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.652	C=0.348
1000Genomes	American	Sub	694	T=0.310	C=0.690
1000Genomes	East Asian	Sub	1008	T=0.423	C=0.577
1000Genomes	Europe	Sub	1006	T=0.193	C=0.807
1000Genomes	Global	Study-wide	5008	T=0.388	C=0.612
1000Genomes	South Asian	Sub	978	T=0.250	C=0.750
The Genome Aggregation Database	African	Sub	8688	T=0.610	C=0.390
The Genome Aggregation Database	American	Sub	838	T=0.360	C=0.64,
The Genome Aggregation Database	East Asian	Sub	1586	T=0.455	C=0.545
The Genome Aggregation Database	Europe	Sub	18476	T=0.214	C=0.785
The Genome Aggregation Database	Global	Study-wide	29890	T=0.345	C=0.654
The Genome Aggregation Database	Other	Sub	302	T=0.200	C=0.80,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.403	C=0.596

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs6445276	0.000244	nicotine smoking	19268276

eQTL of rs6445276 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 rs6445276 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 )
chr3	132930013	132930313	E068	-12294
chr3	132930324	132930648	E068	-11959
chr3	132931929	132932031	E068	-10576
chr3	132930013	132930313	E070	-12294
chr3	132930324	132930648	E070	-11959
chr3	132948910	132948960	E070	6303
chr3	132949027	132949440	E070	6420
chr3	132931929	132932031	E071	-10576
chr3	132967274	132967331	E072	24667
chr3	132967406	132967471	E072	24799
chr3	132967484	132967731	E072	24877
chr3	132930013	132930313	E073	-12294
chr3	132930324	132930648	E073	-11959
chr3	132949027	132949440	E073	6420
chr3	132900352	132900668	E081	-41939
chr3	132900745	132900985	E081	-41622
chr3	132905133	132905229	E081	-37378
chr3	132905405	132905839	E081	-36768
chr3	132906604	132906654	E081	-35953
chr3	132906847	132907116	E081	-35491
chr3	132907203	132907253	E081	-35354
chr3	132908509	132908691	E081	-33916
chr3	132908735	132909030	E081	-33577
chr3	132910278	132910469	E081	-32138
chr3	132910493	132911025	E081	-31582
chr3	132911154	132911239	E081	-31368
chr3	132911309	132911588	E081	-31019
chr3	132911732	132911806	E081	-30801
chr3	132925670	132926149	E081	-16458
chr3	132926250	132926330	E081	-16277
chr3	132926719	132926773	E081	-15834
chr3	132930013	132930313	E081	-12294
chr3	132930324	132930648	E081	-11959
chr3	132930661	132930768	E081	-11839
chr3	132948079	132948157	E081	5472
chr3	132948910	132948960	E081	6303
chr3	132949027	132949440	E081	6420
chr3	132949681	132949750	E081	7074
chr3	132956046	132956129	E081	13439
chr3	132956141	132956235	E081	13534
chr3	132956298	132956628	E081	13691
chr3	132956871	132956921	E081	14264
chr3	132956997	132957187	E081	14390
chr3	132957465	132957549	E081	14858
chr3	132980605	132980763	E081	37998
chr3	132981306	132981498	E081	38699
chr3	132981864	132981940	E081	39257
chr3	132987199	132987996	E081	44592
chr3	132988051	132988112	E081	45444
chr3	132989458	132989603	E081	46851
chr3	132989996	132990242	E081	47389
chr3	132990361	132990820	E081	47754
chr3	132990877	132991141	E081	48270
chr3	132905133	132905229	E082	-37378
chr3	132905405	132905839	E082	-36768
chr3	132906604	132906654	E082	-35953
chr3	132906847	132907116	E082	-35491
chr3	132907203	132907253	E082	-35354
chr3	132908509	132908691	E082	-33916
chr3	132908735	132909030	E082	-33577
chr3	132926250	132926330	E082	-16277
chr3	132926719	132926773	E082	-15834
chr3	132931929	132932031	E082	-10576
chr3	132948910	132948960	E082	6303
chr3	132949027	132949440	E082	6420
chr3	132949681	132949750	E082	7074
chr3	132956046	132956129	E082	13439
chr3	132956141	132956235	E082	13534
chr3	132956298	132956628	E082	13691
chr3	132956871	132956921	E082	14264
chr3	132956997	132957187	E082	14390
chr3	132967406	132967471	E082	24799
chr3	132967484	132967731	E082	24877
chr3	132981306	132981498	E082	38699
chr3	132987199	132987996	E082	44592
chr3	132988051	132988112	E082	45444
chr3	132989996	132990242	E082	47389
chr3	132990361	132990820	E082	47754
chr3	132990877	132991141	E082	48270
chr3	132991473	132991544	E082	48866