Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.167893080T>A |
GRCh37.p13 chr 5 | NC_000005.9:g.167320085T>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TENM2 transcript variant 2 | NM_001080428.2:c. | N/A | Intron Variant |
TENM2 transcript variant 1 | NM_001122679.1:c. | N/A | Intron Variant |
TENM2 transcript variant X3 | XM_005265950.2:c. | N/A | Intron Variant |
TENM2 transcript variant X4 | XM_006714897.2:c. | N/A | Intron Variant |
TENM2 transcript variant X6 | XM_011534604.2:c. | N/A | Intron Variant |
TENM2 transcript variant X1 | XM_017009660.1:c. | N/A | Intron Variant |
TENM2 transcript variant X2 | XM_017009661.1:c. | N/A | Intron Variant |
TENM2 transcript variant X5 | XM_017009662.1:c. | N/A | Intron Variant |
TENM2 transcript variant X7 | XM_017009663.1:c. | N/A | Intron Variant |
TENM2 transcript variant X8 | XM_017009664.1:c. | N/A | Intron Variant |
TENM2 transcript variant X9 | XM_017009665.1:c. | N/A | Intron Variant |
TENM2 transcript variant X10 | XM_017009666.1:c. | N/A | Intron Variant |
TENM2 transcript variant X11 | XM_017009667.1:c. | N/A | Intron Variant |
TENM2 transcript variant X12 | XM_017009668.1:c. | N/A | Intron Variant |
TENM2 transcript variant X13 | XM_017009669.1:c. | N/A | Intron Variant |
TENM2 transcript variant X14 | XM_005265952.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.965 | A=0.035 |
1000Genomes | American | Sub | 694 | T=0.790 | A=0.210 |
1000Genomes | East Asian | Sub | 1008 | T=0.569 | A=0.431 |
1000Genomes | Europe | Sub | 1006 | T=0.907 | A=0.093 |
1000Genomes | Global | Study-wide | 5008 | T=0.823 | A=0.177 |
1000Genomes | South Asian | Sub | 978 | T=0.830 | A=0.170 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.894 | A=0.106 |
The Genome Aggregation Database | African | Sub | 8728 | T=0.951 | A=0.049 |
The Genome Aggregation Database | American | Sub | 838 | T=0.710 | A=0.290 |
The Genome Aggregation Database | East Asian | Sub | 1610 | T=0.598 | A=0.402 |
The Genome Aggregation Database | Europe | Sub | 18484 | T=0.897 | A=0.102 |
The Genome Aggregation Database | Global | Study-wide | 29962 | T=0.891 | A=0.108 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.920 | A=0.080 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.910 | A=0.089 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.902 | A=0.098 |
PMID | Title | Author | Journal |
---|---|---|---|
19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1363204 | 0.000989 | nicotine smoking | 19268276 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr5 | 167288262 | 167288421 | E070 | -31664 |
chr5 | 167288470 | 167289124 | E070 | -30961 |
chr5 | 167289178 | 167289288 | E070 | -30797 |
chr5 | 167289365 | 167289665 | E070 | -30420 |
chr5 | 167294427 | 167294561 | E070 | -25524 |
chr5 | 167288262 | 167288421 | E071 | -31664 |
chr5 | 167288262 | 167288421 | E073 | -31664 |
chr5 | 167345344 | 167346137 | E073 | 25259 |
chr5 | 167288262 | 167288421 | E081 | -31664 |
chr5 | 167288470 | 167289124 | E081 | -30961 |
chr5 | 167289178 | 167289288 | E081 | -30797 |
chr5 | 167289365 | 167289665 | E081 | -30420 |
chr5 | 167291112 | 167291166 | E081 | -28919 |
chr5 | 167294427 | 167294561 | E081 | -25524 |
chr5 | 167323816 | 167324134 | E081 | 3731 |
chr5 | 167324181 | 167324417 | E081 | 4096 |
chr5 | 167326158 | 167326356 | E081 | 6073 |
chr5 | 167326590 | 167326875 | E081 | 6505 |
chr5 | 167339946 | 167340631 | E081 | 19861 |
chr5 | 167342322 | 167342637 | E081 | 22237 |
chr5 | 167343268 | 167343740 | E081 | 23183 |
chr5 | 167343817 | 167344037 | E081 | 23732 |
chr5 | 167345210 | 167345294 | E081 | 25125 |
chr5 | 167345344 | 167346137 | E081 | 25259 |
chr5 | 167346262 | 167346414 | E081 | 26177 |
chr5 | 167346561 | 167346691 | E081 | 26476 |
chr5 | 167288262 | 167288421 | E082 | -31664 |
chr5 | 167294427 | 167294561 | E082 | -25524 |
chr5 | 167323816 | 167324134 | E082 | 3731 |
chr5 | 167339946 | 167340631 | E082 | 19861 |
chr5 | 167345210 | 167345294 | E082 | 25125 |
chr5 | 167345344 | 167346137 | E082 | 25259 |
chr5 | 167346561 | 167346691 | E082 | 26476 |
chr5 | 167360492 | 167360661 | E082 | 40407 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr5 | 167361529 | 167361840 | E068 | 41444 |
chr5 | 167361529 | 167361840 | E072 | 41444 |
chr5 | 167361529 | 167361840 | E073 | 41444 |