Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.166913500C>T |
GRCh37.p13 chr 1 | NC_000001.10:g.166882737C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ILDR2 transcript | NM_199351.2:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X1 | XM_017001252.1:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X2 | XM_017001253.1:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X3 | XM_017001254.1:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X4 | XM_017001255.1:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X5 | XM_017001256.1:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X8 | XM_006711314.3:c. | N/A | 3 Prime UTR Variant |
ILDR2 transcript variant X6 | XM_017001257.1:c. | N/A | Genic Downstream Transcript Variant |
ILDR2 transcript variant X7 | XM_017001258.1:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.626 | T=0.374 |
1000Genomes | American | Sub | 694 | C=0.620 | T=0.380 |
1000Genomes | East Asian | Sub | 1008 | C=0.306 | T=0.694 |
1000Genomes | Europe | Sub | 1006 | C=0.538 | T=0.462 |
1000Genomes | Global | Study-wide | 5008 | C=0.516 | T=0.484 |
1000Genomes | South Asian | Sub | 978 | C=0.490 | T=0.510 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.577 | T=0.423 |
The Genome Aggregation Database | African | Sub | 8694 | C=0.641 | T=0.359 |
The Genome Aggregation Database | American | Sub | 838 | C=0.670 | T=0.330 |
The Genome Aggregation Database | East Asian | Sub | 1610 | C=0.315 | T=0.685 |
The Genome Aggregation Database | Europe | Sub | 18456 | C=0.559 | T=0.440 |
The Genome Aggregation Database | Global | Study-wide | 29900 | C=0.572 | T=0.427 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.520 | T=0.480 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.588 | T=0.411 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.590 | T=0.410 |
PMID | Title | Author | Journal |
---|---|---|---|
24277619 | ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. | Quillen EE | Am J Med Genet B Neuropsychiatr Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1053407 | 0.000624 | alcohol consumption (maxi-drinks) | 24277619 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr1:166882737 | DUTP6 | ENSG00000225171.2 | C>T | 5.7008e-7 | 44752 | Cerebellum |
Chr1:166882737 | DUTP6 | ENSG00000225171.2 | C>T | 5.4909e-4 | 44752 | Frontal_Cortex_BA9 |
Chr1:166882737 | RP4-782G3.1 | ENSG00000237096.1 | C>T | 1.7479e-5 | 5420 | Frontal_Cortex_BA9 |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 8.4953e-14 | -75609 | Frontal_Cortex_BA9 |
Chr1:166882737 | RP4-782G3.1 | ENSG00000237096.1 | C>T | 9.8236e-6 | 5420 | Cortex |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 2.1392e-14 | -75609 | Cortex |
Chr1:166882737 | DUTP6 | ENSG00000225171.2 | C>T | 3.8295e-11 | 44752 | Cerebellar_Hemisphere |
Chr1:166882737 | DUTP6 | ENSG00000225171.2 | C>T | 3.5796e-11 | 44752 | Caudate_basal_ganglia |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 1.1825e-5 | -75609 | Caudate_basal_ganglia |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 1.9878e-11 | -75609 | Hippocampus |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 1.1440e-4 | -75609 | Putamen_basal_ganglia |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 1.2128e-13 | -75609 | Anterior_cingulate_cortex |
Chr1:166882737 | DUTP6 | ENSG00000225171.2 | C>T | 1.0270e-4 | 44752 | Nucleus_accumbens_basal_ganglia |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 1.3509e-9 | -75609 | Nucleus_accumbens_basal_ganglia |
Chr1:166882737 | MAEL | ENSG00000143194.8 | C>T | 2.9462e-4 | -75609 | Amygdala |
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 | 166841359 | 166841523 | E067 | -41214 |
chr1 | 166842627 | 166842713 | E067 | -40024 |
chr1 | 166843894 | 166843990 | E067 | -38747 |
chr1 | 166844346 | 166844396 | E067 | -38341 |
chr1 | 166913758 | 166913820 | E067 | 31021 |
chr1 | 166913942 | 166914201 | E067 | 31205 |
chr1 | 166914411 | 166914489 | E067 | 31674 |
chr1 | 166919300 | 166919359 | E067 | 36563 |
chr1 | 166919473 | 166919697 | E067 | 36736 |
chr1 | 166921382 | 166921631 | E067 | 38645 |
chr1 | 166921730 | 166921956 | E067 | 38993 |
chr1 | 166841359 | 166841523 | E068 | -41214 |
chr1 | 166841951 | 166842001 | E068 | -40736 |
chr1 | 166842196 | 166842282 | E068 | -40455 |
chr1 | 166843894 | 166843990 | E068 | -38747 |
chr1 | 166844346 | 166844396 | E068 | -38341 |
chr1 | 166906544 | 166906985 | E068 | 23807 |
chr1 | 166908038 | 166908088 | E068 | 25301 |
chr1 | 166913942 | 166914201 | E068 | 31205 |
chr1 | 166914411 | 166914489 | E068 | 31674 |
chr1 | 166919300 | 166919359 | E068 | 36563 |
chr1 | 166919473 | 166919697 | E068 | 36736 |
chr1 | 166921217 | 166921277 | E068 | 38480 |
chr1 | 166841359 | 166841523 | E069 | -41214 |
chr1 | 166841951 | 166842001 | E069 | -40736 |
chr1 | 166842196 | 166842282 | E069 | -40455 |
chr1 | 166842540 | 166842580 | E069 | -40157 |
chr1 | 166842627 | 166842713 | E069 | -40024 |
chr1 | 166843894 | 166843990 | E069 | -38747 |
chr1 | 166858084 | 166858258 | E069 | -24479 |
chr1 | 166908038 | 166908088 | E069 | 25301 |
chr1 | 166913758 | 166913820 | E069 | 31021 |
chr1 | 166913942 | 166914201 | E069 | 31205 |
chr1 | 166919300 | 166919359 | E069 | 36563 |
chr1 | 166919473 | 166919697 | E069 | 36736 |
chr1 | 166842540 | 166842580 | E070 | -40157 |
chr1 | 166842627 | 166842713 | E070 | -40024 |
chr1 | 166858084 | 166858258 | E070 | -24479 |
chr1 | 166858332 | 166858427 | E070 | -24310 |
chr1 | 166899310 | 166899479 | E070 | 16573 |
chr1 | 166912969 | 166913066 | E070 | 30232 |
chr1 | 166913758 | 166913820 | E070 | 31021 |
chr1 | 166913942 | 166914201 | E070 | 31205 |
chr1 | 166914411 | 166914489 | E070 | 31674 |
chr1 | 166919300 | 166919359 | E070 | 36563 |
chr1 | 166919473 | 166919697 | E070 | 36736 |
chr1 | 166920194 | 166920270 | E070 | 37457 |
chr1 | 166920568 | 166920645 | E070 | 37831 |
chr1 | 166921217 | 166921277 | E070 | 38480 |
chr1 | 166921382 | 166921631 | E070 | 38645 |
chr1 | 166921730 | 166921956 | E070 | 38993 |
chr1 | 166838124 | 166838184 | E071 | -44553 |
chr1 | 166841359 | 166841523 | E071 | -41214 |
chr1 | 166841951 | 166842001 | E071 | -40736 |
chr1 | 166842196 | 166842282 | E071 | -40455 |
chr1 | 166842540 | 166842580 | E071 | -40157 |
chr1 | 166842627 | 166842713 | E071 | -40024 |
chr1 | 166843894 | 166843990 | E071 | -38747 |
chr1 | 166879386 | 166879451 | E071 | -3286 |
chr1 | 166908038 | 166908088 | E071 | 25301 |
chr1 | 166913942 | 166914201 | E071 | 31205 |
chr1 | 166914411 | 166914489 | E071 | 31674 |
chr1 | 166919300 | 166919359 | E071 | 36563 |
chr1 | 166835253 | 166835447 | E072 | -47290 |
chr1 | 166841359 | 166841523 | E072 | -41214 |
chr1 | 166841951 | 166842001 | E072 | -40736 |
chr1 | 166842196 | 166842282 | E072 | -40455 |
chr1 | 166842540 | 166842580 | E072 | -40157 |
chr1 | 166842627 | 166842713 | E072 | -40024 |
chr1 | 166843894 | 166843990 | E072 | -38747 |
chr1 | 166844346 | 166844396 | E072 | -38341 |
chr1 | 166908038 | 166908088 | E072 | 25301 |
chr1 | 166913942 | 166914201 | E072 | 31205 |
chr1 | 166914411 | 166914489 | E072 | 31674 |
chr1 | 166920194 | 166920270 | E072 | 37457 |
chr1 | 166920568 | 166920645 | E072 | 37831 |
chr1 | 166921217 | 166921277 | E072 | 38480 |
chr1 | 166838124 | 166838184 | E073 | -44553 |
chr1 | 166841359 | 166841523 | E073 | -41214 |
chr1 | 166841951 | 166842001 | E073 | -40736 |
chr1 | 166842196 | 166842282 | E073 | -40455 |
chr1 | 166844346 | 166844396 | E073 | -38341 |
chr1 | 166919300 | 166919359 | E073 | 36563 |
chr1 | 166919473 | 166919697 | E073 | 36736 |
chr1 | 166920194 | 166920270 | E073 | 37457 |
chr1 | 166921217 | 166921277 | E073 | 38480 |
chr1 | 166921382 | 166921631 | E073 | 38645 |
chr1 | 166841359 | 166841523 | E074 | -41214 |
chr1 | 166842627 | 166842713 | E074 | -40024 |
chr1 | 166843894 | 166843990 | E074 | -38747 |
chr1 | 166844346 | 166844396 | E074 | -38341 |
chr1 | 166908038 | 166908088 | E074 | 25301 |
chr1 | 166913942 | 166914201 | E074 | 31205 |
chr1 | 166914411 | 166914489 | E074 | 31674 |
chr1 | 166919300 | 166919359 | E074 | 36563 |
chr1 | 166919473 | 166919697 | E074 | 36736 |
chr1 | 166843894 | 166843990 | E081 | -38747 |
chr1 | 166844346 | 166844396 | E081 | -38341 |
chr1 | 166858084 | 166858258 | E081 | -24479 |
chr1 | 166858332 | 166858427 | E081 | -24310 |
chr1 | 166894615 | 166894802 | E081 | 11878 |
chr1 | 166894861 | 166894986 | E081 | 12124 |
chr1 | 166895091 | 166895452 | E081 | 12354 |
chr1 | 166908924 | 166909584 | E081 | 26187 |
chr1 | 166913758 | 166913820 | E081 | 31021 |
chr1 | 166913942 | 166914201 | E081 | 31205 |
chr1 | 166919300 | 166919359 | E081 | 36563 |
chr1 | 166919473 | 166919697 | E081 | 36736 |
chr1 | 166920194 | 166920270 | E081 | 37457 |
chr1 | 166921217 | 166921277 | E081 | 38480 |
chr1 | 166921382 | 166921631 | E081 | 38645 |
chr1 | 166858084 | 166858258 | E082 | -24479 |
chr1 | 166858332 | 166858427 | E082 | -24310 |
chr1 | 166913942 | 166914201 | E082 | 31205 |
chr1 | 166919300 | 166919359 | E082 | 36563 |
chr1 | 166919473 | 166919697 | E082 | 36736 |
chr1 | 166920194 | 166920270 | E082 | 37457 |
chr1 | 166921382 | 166921631 | E082 | 38645 |
chr1 | 166921730 | 166921956 | E082 | 38993 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 166844623 | 166846078 | E067 | -36659 |
chr1 | 166846160 | 166846229 | E067 | -36508 |
chr1 | 166853411 | 166853837 | E067 | -28900 |
chr1 | 166889825 | 166890966 | E067 | 7088 |
chr1 | 166916414 | 166917455 | E067 | 33677 |
chr1 | 166844623 | 166846078 | E068 | -36659 |
chr1 | 166846160 | 166846229 | E068 | -36508 |
chr1 | 166853411 | 166853837 | E068 | -28900 |
chr1 | 166889576 | 166889778 | E068 | 6839 |
chr1 | 166889825 | 166890966 | E068 | 7088 |
chr1 | 166916414 | 166917455 | E068 | 33677 |
chr1 | 166844623 | 166846078 | E069 | -36659 |
chr1 | 166846160 | 166846229 | E069 | -36508 |
chr1 | 166853411 | 166853837 | E069 | -28900 |
chr1 | 166889825 | 166890966 | E069 | 7088 |
chr1 | 166916414 | 166917455 | E069 | 33677 |
chr1 | 166844623 | 166846078 | E070 | -36659 |
chr1 | 166846160 | 166846229 | E070 | -36508 |
chr1 | 166853411 | 166853837 | E070 | -28900 |
chr1 | 166889825 | 166890966 | E070 | 7088 |
chr1 | 166916414 | 166917455 | E070 | 33677 |
chr1 | 166844623 | 166846078 | E071 | -36659 |
chr1 | 166846160 | 166846229 | E071 | -36508 |
chr1 | 166853411 | 166853837 | E071 | -28900 |
chr1 | 166889576 | 166889778 | E071 | 6839 |
chr1 | 166889825 | 166890966 | E071 | 7088 |
chr1 | 166916414 | 166917455 | E071 | 33677 |
chr1 | 166844623 | 166846078 | E072 | -36659 |
chr1 | 166853411 | 166853837 | E072 | -28900 |
chr1 | 166889576 | 166889778 | E072 | 6839 |
chr1 | 166889825 | 166890966 | E072 | 7088 |
chr1 | 166916414 | 166917455 | E072 | 33677 |
chr1 | 166844623 | 166846078 | E073 | -36659 |
chr1 | 166846160 | 166846229 | E073 | -36508 |
chr1 | 166853411 | 166853837 | E073 | -28900 |
chr1 | 166889825 | 166890966 | E073 | 7088 |
chr1 | 166916414 | 166917455 | E073 | 33677 |
chr1 | 166844623 | 166846078 | E074 | -36659 |
chr1 | 166846160 | 166846229 | E074 | -36508 |
chr1 | 166916414 | 166917455 | E074 | 33677 |
chr1 | 166844623 | 166846078 | E082 | -36659 |
chr1 | 166846160 | 166846229 | E082 | -36508 |
chr1 | 166889825 | 166890966 | E082 | 7088 |
chr1 | 166916414 | 166917455 | E082 | 33677 |