Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.78875415G>A |
GRCh37.p13 chr 7 | NC_000007.13:g.78504731G>A |
MAGI2 RefSeqGene | NG_011487.1:g.583160C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MAGI2 transcript variant 2 | NM_001301128.1:c. | N/A | Intron Variant |
MAGI2 transcript variant 1 | NM_012301.3:c. | N/A | Intron Variant |
MAGI2 transcript variant X6 | XM_011516718.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X1 | XM_017012840.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X2 | XM_017012841.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X3 | XM_017012842.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X4 | XM_017012843.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X5 | XM_017012844.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X7 | XM_017012845.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X8 | XM_017012846.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X14 | XM_017012850.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X15 | XM_017012851.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X16 | XM_017012852.1:c. | N/A | Intron Variant |
MAGI2 transcript variant X9 | XM_011516719.2:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X10 | XM_011516720.2:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X17 | XM_011516726.2:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X19 | XM_011516728.1:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X11 | XM_017012847.1:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X12 | XM_017012848.1:c. | N/A | Genic Upstream Transcript Variant |
MAGI2 transcript variant X13 | XM_017012849.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.626 | A=0.374 |
1000Genomes | American | Sub | 694 | G=0.200 | A=0.800 |
1000Genomes | East Asian | Sub | 1008 | G=0.235 | A=0.765 |
1000Genomes | Europe | Sub | 1006 | G=0.056 | A=0.944 |
1000Genomes | Global | Study-wide | 5008 | G=0.277 | A=0.723 |
1000Genomes | South Asian | Sub | 978 | G=0.130 | A=0.870 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.068 | A=0.932 |
The Genome Aggregation Database | African | Sub | 8690 | G=0.518 | A=0.482 |
The Genome Aggregation Database | American | Sub | 836 | G=0.190 | A=0.810 |
The Genome Aggregation Database | East Asian | Sub | 1616 | G=0.256 | A=0.744 |
The Genome Aggregation Database | Europe | Sub | 18492 | G=0.050 | A=0.949 |
The Genome Aggregation Database | Global | Study-wide | 29936 | G=0.201 | A=0.798 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.070 | A=0.930 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.280 | A=0.719 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.068 | A=0.932 |
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 |
---|---|---|---|
rs514463 | 0.000652 | 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 ) |
---|---|---|---|---|
chr7 | 78479751 | 78479838 | E067 | -24893 |
chr7 | 78479921 | 78480028 | E067 | -24703 |
chr7 | 78480093 | 78480143 | E067 | -24588 |
chr7 | 78480596 | 78480775 | E067 | -23956 |
chr7 | 78479751 | 78479838 | E069 | -24893 |
chr7 | 78479921 | 78480028 | E069 | -24703 |
chr7 | 78480093 | 78480143 | E069 | -24588 |
chr7 | 78493133 | 78493372 | E070 | -11359 |
chr7 | 78493795 | 78493914 | E070 | -10817 |
chr7 | 78479751 | 78479838 | E071 | -24893 |
chr7 | 78479921 | 78480028 | E071 | -24703 |
chr7 | 78480093 | 78480143 | E071 | -24588 |
chr7 | 78531943 | 78532003 | E071 | 27212 |
chr7 | 78532058 | 78532151 | E071 | 27327 |
chr7 | 78532248 | 78532479 | E071 | 27517 |
chr7 | 78479751 | 78479838 | E072 | -24893 |
chr7 | 78479921 | 78480028 | E072 | -24703 |
chr7 | 78480093 | 78480143 | E072 | -24588 |
chr7 | 78480596 | 78480775 | E072 | -23956 |
chr7 | 78479751 | 78479838 | E073 | -24893 |
chr7 | 78479921 | 78480028 | E073 | -24703 |
chr7 | 78480093 | 78480143 | E073 | -24588 |
chr7 | 78479921 | 78480028 | E074 | -24703 |
chr7 | 78480093 | 78480143 | E074 | -24588 |
chr7 | 78480596 | 78480775 | E074 | -23956 |
chr7 | 78492519 | 78493113 | E082 | -11618 |
chr7 | 78493133 | 78493372 | E082 | -11359 |
chr7 | 78493795 | 78493914 | E082 | -10817 |
chr7 | 78530199 | 78530436 | E082 | 25468 |
chr7 | 78530492 | 78530555 | E082 | 25761 |