Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.130419855A>G |
GRCh37.p13 chr 12 | NC_000012.11:g.130904400A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
RIMBP2 transcript | NM_015347.4:c. | N/A | Intron Variant |
RIMBP2 transcript variant X1 | XM_011538102.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X2 | XM_011538103.2:c. | N/A | Intron Variant |
RIMBP2 transcript variant X3 | XM_011538104.2:c. | N/A | Intron Variant |
RIMBP2 transcript variant X5 | XM_011538105.2:c. | N/A | Intron Variant |
RIMBP2 transcript variant X6 | XM_011538106.2:c. | N/A | Intron Variant |
RIMBP2 transcript variant X4 | XM_017019105.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X7 | XM_017019106.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X8 | XM_017019107.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X9 | XM_017019108.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X10 | XM_017019109.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X11 | XM_017019110.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X12 | XM_017019111.1:c. | N/A | Intron Variant |
RIMBP2 transcript variant X13 | XM_011538107.2:c. | N/A | Genic Downstream Transcript Variant |
RIMBP2 transcript variant X14 | XM_011538108.2:c. | N/A | Genic Downstream Transcript Variant |
RIMBP2 transcript variant X15 | XM_017019112.1:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.378 | G=0.622 |
1000Genomes | American | Sub | 694 | A=0.670 | G=0.330 |
1000Genomes | East Asian | Sub | 1008 | A=0.598 | G=0.402 |
1000Genomes | Europe | Sub | 1006 | A=0.911 | G=0.089 |
1000Genomes | Global | Study-wide | 5008 | A=0.676 | G=0.324 |
1000Genomes | South Asian | Sub | 978 | A=0.920 | G=0.080 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.912 | G=0.088 |
The Genome Aggregation Database | African | Sub | 8696 | A=0.449 | G=0.551 |
The Genome Aggregation Database | American | Sub | 834 | A=0.660 | G=0.340 |
The Genome Aggregation Database | East Asian | Sub | 1612 | A=0.635 | G=0.365 |
The Genome Aggregation Database | Europe | Sub | 18464 | A=0.911 | G=0.088 |
The Genome Aggregation Database | Global | Study-wide | 29908 | A=0.755 | G=0.244 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.900 | G=0.100 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.679 | G=0.321 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.907 | G=0.093 |
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 |
---|---|---|---|
rs11060883 | 0.000803 | 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 ) |
---|---|---|---|---|
chr12 | 130882734 | 130882939 | E067 | -21461 |
chr12 | 130882001 | 130882055 | E068 | -22345 |
chr12 | 130880990 | 130881180 | E069 | -23220 |
chr12 | 130881647 | 130881800 | E069 | -22600 |
chr12 | 130882001 | 130882055 | E069 | -22345 |
chr12 | 130883011 | 130883365 | E069 | -21035 |
chr12 | 130906420 | 130906521 | E069 | 2020 |
chr12 | 130941767 | 130941817 | E069 | 37367 |
chr12 | 130941936 | 130941987 | E069 | 37536 |
chr12 | 130941990 | 130942098 | E069 | 37590 |
chr12 | 130860341 | 130860412 | E070 | -43988 |
chr12 | 130881647 | 130881800 | E070 | -22600 |
chr12 | 130882001 | 130882055 | E070 | -22345 |
chr12 | 130940981 | 130941031 | E070 | 36581 |
chr12 | 130941199 | 130941704 | E070 | 36799 |
chr12 | 130941767 | 130941817 | E070 | 37367 |
chr12 | 130941936 | 130941987 | E070 | 37536 |
chr12 | 130941990 | 130942098 | E070 | 37590 |
chr12 | 130942476 | 130942875 | E070 | 38076 |
chr12 | 130943084 | 130943124 | E070 | 38684 |
chr12 | 130947116 | 130947166 | E070 | 42716 |
chr12 | 130947213 | 130947269 | E070 | 42813 |
chr12 | 130947281 | 130947391 | E070 | 42881 |
chr12 | 130948584 | 130948801 | E070 | 44184 |
chr12 | 130949325 | 130949382 | E070 | 44925 |
chr12 | 130949877 | 130949947 | E070 | 45477 |
chr12 | 130880990 | 130881180 | E071 | -23220 |
chr12 | 130882001 | 130882055 | E071 | -22345 |
chr12 | 130882734 | 130882939 | E071 | -21461 |
chr12 | 130941990 | 130942098 | E071 | 37590 |
chr12 | 130880990 | 130881180 | E072 | -23220 |
chr12 | 130882001 | 130882055 | E072 | -22345 |
chr12 | 130913201 | 130913307 | E072 | 8801 |
chr12 | 130913676 | 130914177 | E072 | 9276 |
chr12 | 130947213 | 130947269 | E072 | 42813 |
chr12 | 130947281 | 130947391 | E072 | 42881 |
chr12 | 130941936 | 130941987 | E073 | 37536 |
chr12 | 130947116 | 130947166 | E073 | 42716 |
chr12 | 130947213 | 130947269 | E073 | 42813 |
chr12 | 130947281 | 130947391 | E073 | 42881 |
chr12 | 130948584 | 130948801 | E073 | 44184 |
chr12 | 130880990 | 130881180 | E074 | -23220 |
chr12 | 130855362 | 130855422 | E081 | -48978 |
chr12 | 130855513 | 130855624 | E081 | -48776 |
chr12 | 130875677 | 130875733 | E081 | -28667 |
chr12 | 130912812 | 130912958 | E081 | 8412 |
chr12 | 130913015 | 130913079 | E081 | 8615 |
chr12 | 130913201 | 130913307 | E081 | 8801 |
chr12 | 130913676 | 130914177 | E081 | 9276 |
chr12 | 130914218 | 130914286 | E081 | 9818 |
chr12 | 130914470 | 130914745 | E081 | 10070 |
chr12 | 130914840 | 130914920 | E081 | 10440 |
chr12 | 130939484 | 130939619 | E081 | 35084 |
chr12 | 130939716 | 130939756 | E081 | 35316 |
chr12 | 130939903 | 130939953 | E081 | 35503 |
chr12 | 130940657 | 130940778 | E081 | 36257 |
chr12 | 130940981 | 130941031 | E081 | 36581 |
chr12 | 130941199 | 130941704 | E081 | 36799 |
chr12 | 130941767 | 130941817 | E081 | 37367 |
chr12 | 130941936 | 130941987 | E081 | 37536 |
chr12 | 130941990 | 130942098 | E081 | 37590 |
chr12 | 130942476 | 130942875 | E081 | 38076 |
chr12 | 130943084 | 130943124 | E081 | 38684 |
chr12 | 130943718 | 130943807 | E081 | 39318 |
chr12 | 130944591 | 130944726 | E081 | 40191 |
chr12 | 130945002 | 130945046 | E081 | 40602 |
chr12 | 130945515 | 130945572 | E081 | 41115 |
chr12 | 130945594 | 130945710 | E081 | 41194 |
chr12 | 130945996 | 130946046 | E081 | 41596 |
chr12 | 130946170 | 130946242 | E081 | 41770 |
chr12 | 130946552 | 130946636 | E081 | 42152 |
chr12 | 130946813 | 130946929 | E081 | 42413 |
chr12 | 130947116 | 130947166 | E081 | 42716 |
chr12 | 130947213 | 130947269 | E081 | 42813 |
chr12 | 130947281 | 130947391 | E081 | 42881 |
chr12 | 130948584 | 130948801 | E081 | 44184 |
chr12 | 130949325 | 130949382 | E081 | 44925 |
chr12 | 130949877 | 130949947 | E081 | 45477 |
chr12 | 130950298 | 130950338 | E081 | 45898 |
chr12 | 130854446 | 130854775 | E082 | -49625 |
chr12 | 130855362 | 130855422 | E082 | -48978 |
chr12 | 130855513 | 130855624 | E082 | -48776 |
chr12 | 130913676 | 130914177 | E082 | 9276 |
chr12 | 130914218 | 130914286 | E082 | 9818 |
chr12 | 130914470 | 130914745 | E082 | 10070 |
chr12 | 130914840 | 130914920 | E082 | 10440 |
chr12 | 130941199 | 130941704 | E082 | 36799 |
chr12 | 130941767 | 130941817 | E082 | 37367 |
chr12 | 130941936 | 130941987 | E082 | 37536 |
chr12 | 130941990 | 130942098 | E082 | 37590 |
chr12 | 130942476 | 130942875 | E082 | 38076 |
chr12 | 130946813 | 130946929 | E082 | 42413 |
chr12 | 130947116 | 130947166 | E082 | 42716 |
chr12 | 130947213 | 130947269 | E082 | 42813 |
chr12 | 130947281 | 130947391 | E082 | 42881 |
chr12 | 130948584 | 130948801 | E082 | 44184 |