rs17355446

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

TTN : Missense Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0051 (5975/117034,ExAC)
A=0022 (682/29934,GnomAD)
A=0021 (633/29118,TOPMED)
G==0015 (186/12252,GO-ESP)
A=0052 (258/5008,1000G)
A=0019 (75/3854,ALSPAC)
A=0018 (68/3708,TWINSUK)

Position: chr2:178724514 (GRCh38.p7) (2q31.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 4 publication(s)

Genomic View: See rs on genome

Enhancer: 5 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.178724514G>A
GRCh37.p13 chr 2	NC_000002.11:g.179589241G>A
TTN RefSeqGene	LRG_391

Gene: TTN, titin(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TTN transcript variant N2-B	NM_003319.4:c.	N/A	Intron Variant
TTN transcript variant novex-1	NM_133432.3:c.	N/A	Intron Variant
TTN transcript variant novex-2	NM_133437.4:c.	N/A	Intron Variant
TTN transcript variant novex-3	NM_133379.4:c.	N/A	Genic Downstream Transcript Variant
TTN transcript variant N2-A	NM_133378.4:c.171...NM_133378.4:c.17129C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform N2-A	NP_596869.4:p.Ala...NP_596869.4:p.Ala5710Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant N2BA	NM_001256850.1:c....NM_001256850.1:c.19910C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform N2BA	NP_001243779.1:p....NP_001243779.1:p.Ala6637Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant IC	NM_001267550.2:c....NM_001267550.2:c.20861C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform IC	NP_001254479.2:p....NP_001254479.2:p.Ala6954Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant X10	XM_017004823.1:c.	N/A	Intron Variant
TTN transcript variant X1	XM_017004819.1:c....XM_017004819.1:c.19913C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform X1	XP_016860308.1:p....XP_016860308.1:p.Ala6638Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant X4	XM_017004820.1:c....XM_017004820.1:c.17132C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform X4	XP_016860309.1:p....XP_016860309.1:p.Ala5711Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant X5	XM_017004821.1:c....XM_017004821.1:c.17129C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform X5	XP_016860310.1:p....XP_016860310.1:p.Ala5710Val	A [Ala]> V [Val]	Missense Variant
TTN transcript variant X7	XM_017004822.1:c....XM_017004822.1:c.19913C>T	A [GCA]> V [GTA]	Coding Sequence Variant
titin isoform X7	XP_016860311.1:p....XP_016860311.1:p.Ala6638Val	A [Ala]> V [Val]	Missense Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.998	A=0.002
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.998	A=0.002
1000Genomes	Europe	Sub	1006	G=0.970	A=0.030
1000Genomes	Global	Study-wide	5008	G=0.948	A=0.052
1000Genomes	South Asian	Sub	978	G=0.870	A=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.981	A=0.019
The Exome Aggregation Consortium	American	Sub	21014	G=0.895	A=0.104
The Exome Aggregation Consortium	Asian	Sub	23248	G=0.911	A=0.088
The Exome Aggregation Consortium	Europe	Sub	71906	G=0.976	A=0.023
The Exome Aggregation Consortium	Global	Study-wide	117034	G=0.948	A=0.051
The Exome Aggregation Consortium	Other	Sub	866	G=0.930	A=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.978	A=0.021
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.982	A=0.018

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S	Genet Med
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H	Clin Genet
23861362	Interpreting secondary cardiac disease variants in an exome cohort.	Ng D	Circ Cardiovasc Genet

P-Value

SNP ID	p-value	Traits	Study
rs17355446	1.38E-05	nicotine smoking	19268276

eQTL of rs17355446 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 rs17355446 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 )
chr2	179631977	179632365	E070	42736
chr2	179632415	179632585	E070	43174
chr2	179632676	179632730	E070	43435
chr2	179632778	179632828	E070	43537
chr2	179595297	179595361	E074	6056