Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.198245912T>G |
GRCh37.p13 chr 1 | NC_000001.10:g.198215042T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NEK7 transcript | NM_133494.2:c. | N/A | Intron Variant |
NEK7 transcript variant X6 | XM_011509209.1:c. | N/A | Intron Variant |
NEK7 transcript variant X1 | XM_017000344.1:c. | N/A | Intron Variant |
NEK7 transcript variant X2 | XM_017000345.1:c. | N/A | Intron Variant |
NEK7 transcript variant X3 | XM_017000346.1:c. | N/A | Intron Variant |
NEK7 transcript variant X4 | XM_017000347.1:c. | N/A | Intron Variant |
NEK7 transcript variant X5 | XM_017000348.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.829 | G=0.171 |
1000Genomes | American | Sub | 694 | T=0.900 | G=0.100 |
1000Genomes | East Asian | Sub | 1008 | T=0.760 | G=0.240 |
1000Genomes | Europe | Sub | 1006 | T=0.943 | G=0.057 |
1000Genomes | Global | Study-wide | 5008 | T=0.864 | G=0.136 |
1000Genomes | South Asian | Sub | 978 | T=0.910 | G=0.090 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.948 | G=0.052 |
The Genome Aggregation Database | African | Sub | 8722 | T=0.839 | G=0.161 |
The Genome Aggregation Database | American | Sub | 836 | T=0.850 | G=0.150 |
The Genome Aggregation Database | East Asian | Sub | 1616 | T=0.816 | G=0.184 |
The Genome Aggregation Database | Europe | Sub | 18492 | T=0.936 | G=0.064 |
The Genome Aggregation Database | Global | Study-wide | 29968 | T=0.899 | G=0.100 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.950 | G=0.050 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.887 | G=0.112 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.949 | G=0.051 |
PMID | Title | Author | Journal |
---|---|---|---|
17158188 | Novel genes identified in a high-density genome wide association study for nicotine dependence. | Bierut LJ | Hum Mol Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10494765 | 0.000474 | nicotine dependence | 17158188 |
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 ) |
---|---|---|---|---|
chr1 | 198167287 | 198167337 | E067 | -47705 |
chr1 | 198167672 | 198167744 | E067 | -47298 |
chr1 | 198168369 | 198168518 | E067 | -46524 |
chr1 | 198170755 | 198170811 | E067 | -44231 |
chr1 | 198171027 | 198171109 | E067 | -43933 |
chr1 | 198171223 | 198171464 | E067 | -43578 |
chr1 | 198171571 | 198171786 | E067 | -43256 |
chr1 | 198172633 | 198172867 | E067 | -42175 |
chr1 | 198174227 | 198174397 | E067 | -40645 |
chr1 | 198203658 | 198204004 | E067 | -11038 |
chr1 | 198204103 | 198204252 | E067 | -10790 |
chr1 | 198234177 | 198234919 | E067 | 19135 |
chr1 | 198165590 | 198165724 | E068 | -49318 |
chr1 | 198167287 | 198167337 | E068 | -47705 |
chr1 | 198170119 | 198170185 | E068 | -44857 |
chr1 | 198170755 | 198170811 | E068 | -44231 |
chr1 | 198171027 | 198171109 | E068 | -43933 |
chr1 | 198171223 | 198171464 | E068 | -43578 |
chr1 | 198171571 | 198171786 | E068 | -43256 |
chr1 | 198172633 | 198172867 | E068 | -42175 |
chr1 | 198174227 | 198174397 | E068 | -40645 |
chr1 | 198189034 | 198189228 | E068 | -25814 |
chr1 | 198189316 | 198189460 | E068 | -25582 |
chr1 | 198189685 | 198189908 | E068 | -25134 |
chr1 | 198203658 | 198204004 | E068 | -11038 |
chr1 | 198214303 | 198214587 | E068 | -455 |
chr1 | 198214672 | 198214830 | E068 | -212 |
chr1 | 198234177 | 198234919 | E068 | 19135 |
chr1 | 198264401 | 198264696 | E068 | 49359 |
chr1 | 198167287 | 198167337 | E069 | -47705 |
chr1 | 198167672 | 198167744 | E069 | -47298 |
chr1 | 198168369 | 198168518 | E069 | -46524 |
chr1 | 198170119 | 198170185 | E069 | -44857 |
chr1 | 198170755 | 198170811 | E069 | -44231 |
chr1 | 198171027 | 198171109 | E069 | -43933 |
chr1 | 198171223 | 198171464 | E069 | -43578 |
chr1 | 198171571 | 198171786 | E069 | -43256 |
chr1 | 198172633 | 198172867 | E069 | -42175 |
chr1 | 198174227 | 198174397 | E069 | -40645 |
chr1 | 198198124 | 198198322 | E069 | -16720 |
chr1 | 198203658 | 198204004 | E069 | -11038 |
chr1 | 198204103 | 198204252 | E069 | -10790 |
chr1 | 198215381 | 198215887 | E069 | 339 |
chr1 | 198234177 | 198234919 | E069 | 19135 |
chr1 | 198167672 | 198167744 | E070 | -47298 |
chr1 | 198174227 | 198174397 | E070 | -40645 |
chr1 | 198215381 | 198215887 | E070 | 339 |
chr1 | 198245499 | 198245631 | E070 | 30457 |
chr1 | 198245734 | 198245788 | E070 | 30692 |
chr1 | 198167672 | 198167744 | E071 | -47298 |
chr1 | 198168369 | 198168518 | E071 | -46524 |
chr1 | 198170119 | 198170185 | E071 | -44857 |
chr1 | 198170755 | 198170811 | E071 | -44231 |
chr1 | 198171027 | 198171109 | E071 | -43933 |
chr1 | 198171223 | 198171464 | E071 | -43578 |
chr1 | 198171571 | 198171786 | E071 | -43256 |
chr1 | 198174227 | 198174397 | E071 | -40645 |
chr1 | 198203658 | 198204004 | E071 | -11038 |
chr1 | 198204103 | 198204252 | E071 | -10790 |
chr1 | 198237858 | 198238218 | E071 | 22816 |
chr1 | 198238244 | 198239007 | E071 | 23202 |
chr1 | 198264401 | 198264696 | E071 | 49359 |
chr1 | 198167287 | 198167337 | E072 | -47705 |
chr1 | 198171223 | 198171464 | E072 | -43578 |
chr1 | 198171571 | 198171786 | E072 | -43256 |
chr1 | 198172633 | 198172867 | E072 | -42175 |
chr1 | 198203658 | 198204004 | E072 | -11038 |
chr1 | 198204103 | 198204252 | E072 | -10790 |
chr1 | 198234177 | 198234919 | E072 | 19135 |
chr1 | 198238244 | 198239007 | E072 | 23202 |
chr1 | 198171571 | 198171786 | E073 | -43256 |
chr1 | 198172633 | 198172867 | E073 | -42175 |
chr1 | 198203658 | 198204004 | E073 | -11038 |
chr1 | 198204103 | 198204252 | E073 | -10790 |
chr1 | 198234177 | 198234919 | E073 | 19135 |
chr1 | 198167287 | 198167337 | E074 | -47705 |
chr1 | 198167672 | 198167744 | E074 | -47298 |
chr1 | 198168369 | 198168518 | E074 | -46524 |
chr1 | 198170755 | 198170811 | E074 | -44231 |
chr1 | 198171027 | 198171109 | E074 | -43933 |
chr1 | 198171223 | 198171464 | E074 | -43578 |
chr1 | 198171571 | 198171786 | E074 | -43256 |
chr1 | 198203658 | 198204004 | E074 | -11038 |
chr1 | 198204103 | 198204252 | E074 | -10790 |
chr1 | 198214144 | 198214259 | E074 | -783 |
chr1 | 198214303 | 198214587 | E074 | -455 |
chr1 | 198214672 | 198214830 | E074 | -212 |
chr1 | 198234177 | 198234919 | E074 | 19135 |
chr1 | 198237627 | 198237687 | E074 | 22585 |
chr1 | 198237858 | 198238218 | E074 | 22816 |
chr1 | 198174227 | 198174397 | E081 | -40645 |
chr1 | 198214303 | 198214587 | E081 | -455 |
chr1 | 198214672 | 198214830 | E081 | -212 |
chr1 | 198257408 | 198257532 | E081 | 42366 |
chr1 | 198264401 | 198264696 | E081 | 49359 |
chr1 | 198256992 | 198257340 | E082 | 41950 |
chr1 | 198257408 | 198257532 | E082 | 42366 |