Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.40404215T>C |
GRCh37.p13 chr 2 | NC_000002.11:g.40631355T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SLC8A1 transcript variant B | NM_001112800.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant C | NM_001112801.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant D | NM_001112802.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant E | NM_001252624.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant A | NM_021097.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X30 | XM_005264514.3:c. | N/A | Intron Variant |
SLC8A1 transcript variant X8 | XM_006712081.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X7 | XM_006712082.3:c. | N/A | Intron Variant |
SLC8A1 transcript variant X12 | XM_006712083.3:c. | N/A | Intron Variant |
SLC8A1 transcript variant X14 | XM_006712084.3:c. | N/A | Intron Variant |
SLC8A1 transcript variant X16 | XM_006712085.3:c. | N/A | Intron Variant |
SLC8A1 transcript variant X3 | XM_011533050.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X10 | XM_011533054.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X15 | XM_011533055.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X17 | XM_011533056.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X19 | XM_011533057.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X21 | XM_011533058.2:c. | N/A | Intron Variant |
SLC8A1 transcript variant X1 | XM_017004745.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X2 | XM_017004746.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X4 | XM_017004747.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X5 | XM_017004748.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X6 | XM_017004749.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X9 | XM_017004750.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X11 | XM_017004751.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X13 | XM_017004752.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X18 | XM_017004753.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X20 | XM_017004754.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X21 | XM_017004755.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X22 | XM_017004756.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X23 | XM_017004757.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X24 | XM_017004758.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X25 | XM_017004759.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X26 | XM_017004760.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X27 | XM_017004761.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X28 | XM_017004762.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X29 | XM_017004763.1:c. | N/A | Intron Variant |
SLC8A1 transcript variant X22 | XM_017004764.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.632 | C=0.368 |
1000Genomes | American | Sub | 694 | T=0.640 | C=0.360 |
1000Genomes | East Asian | Sub | 1008 | T=0.693 | C=0.307 |
1000Genomes | Europe | Sub | 1006 | T=0.741 | C=0.259 |
1000Genomes | Global | Study-wide | 5008 | T=0.698 | C=0.302 |
1000Genomes | South Asian | Sub | 978 | T=0.790 | C=0.210 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.772 | C=0.228 |
The Genome Aggregation Database | African | Sub | 8700 | T=0.634 | C=0.366 |
The Genome Aggregation Database | American | Sub | 838 | T=0.650 | C=0.350 |
The Genome Aggregation Database | East Asian | Sub | 1606 | T=0.693 | C=0.307 |
The Genome Aggregation Database | Europe | Sub | 18460 | T=0.736 | C=0.263 |
The Genome Aggregation Database | Global | Study-wide | 29906 | T=0.701 | C=0.298 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.750 | C=0.250 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29116 | T=0.677 | C=0.323 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.786 | C=0.214 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10490045 | 6.4E-05 | alcohol consumption | 23743675 |
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 ) |
---|---|---|---|---|
chr2 | 40592762 | 40592812 | E067 | -38543 |
chr2 | 40680221 | 40680344 | E067 | 48866 |
chr2 | 40586139 | 40586189 | E068 | -45166 |
chr2 | 40598523 | 40599254 | E068 | -32101 |
chr2 | 40622170 | 40622713 | E068 | -8642 |
chr2 | 40627557 | 40627653 | E068 | -3702 |
chr2 | 40627671 | 40627842 | E068 | -3513 |
chr2 | 40627850 | 40628015 | E068 | -3340 |
chr2 | 40628179 | 40628311 | E068 | -3044 |
chr2 | 40630069 | 40630122 | E068 | -1233 |
chr2 | 40630190 | 40630288 | E068 | -1067 |
chr2 | 40630466 | 40631036 | E068 | -319 |
chr2 | 40631185 | 40631520 | E068 | 0 |
chr2 | 40632632 | 40632926 | E068 | 1277 |
chr2 | 40645655 | 40645870 | E068 | 14300 |
chr2 | 40645885 | 40646113 | E068 | 14530 |
chr2 | 40646445 | 40646575 | E068 | 15090 |
chr2 | 40646584 | 40646723 | E068 | 15229 |
chr2 | 40646750 | 40646801 | E068 | 15395 |
chr2 | 40658197 | 40658400 | E068 | 26842 |
chr2 | 40658445 | 40658626 | E068 | 27090 |
chr2 | 40658672 | 40659036 | E068 | 27317 |
chr2 | 40661830 | 40662676 | E068 | 30475 |
chr2 | 40662694 | 40662774 | E068 | 31339 |
chr2 | 40662969 | 40663073 | E068 | 31614 |
chr2 | 40663145 | 40663217 | E068 | 31790 |
chr2 | 40663327 | 40663442 | E068 | 31972 |
chr2 | 40664516 | 40664665 | E068 | 33161 |
chr2 | 40666163 | 40666313 | E068 | 34808 |
chr2 | 40666513 | 40666557 | E068 | 35158 |
chr2 | 40666724 | 40666926 | E068 | 35369 |
chr2 | 40672729 | 40672947 | E068 | 41374 |
chr2 | 40646445 | 40646575 | E069 | 15090 |
chr2 | 40646584 | 40646723 | E069 | 15229 |
chr2 | 40647891 | 40648017 | E069 | 16536 |
chr2 | 40590461 | 40590616 | E070 | -40739 |
chr2 | 40622880 | 40623078 | E070 | -8277 |
chr2 | 40623158 | 40623266 | E070 | -8089 |
chr2 | 40623444 | 40623562 | E070 | -7793 |
chr2 | 40630466 | 40631036 | E070 | -319 |
chr2 | 40631185 | 40631520 | E070 | 0 |
chr2 | 40632632 | 40632926 | E070 | 1277 |
chr2 | 40646445 | 40646575 | E070 | 15090 |
chr2 | 40646584 | 40646723 | E070 | 15229 |
chr2 | 40646750 | 40646801 | E070 | 15395 |
chr2 | 40680221 | 40680344 | E070 | 48866 |
chr2 | 40680346 | 40680656 | E070 | 48991 |
chr2 | 40680699 | 40681048 | E070 | 49344 |
chr2 | 40622170 | 40622713 | E071 | -8642 |
chr2 | 40622880 | 40623078 | E071 | -8277 |
chr2 | 40630466 | 40631036 | E071 | -319 |
chr2 | 40631185 | 40631520 | E071 | 0 |
chr2 | 40647891 | 40648017 | E072 | 16536 |
chr2 | 40658197 | 40658400 | E072 | 26842 |
chr2 | 40658445 | 40658626 | E072 | 27090 |
chr2 | 40680221 | 40680344 | E072 | 48866 |
chr2 | 40680346 | 40680656 | E072 | 48991 |
chr2 | 40622170 | 40622713 | E073 | -8642 |
chr2 | 40622880 | 40623078 | E073 | -8277 |
chr2 | 40645655 | 40645870 | E073 | 14300 |
chr2 | 40645885 | 40646113 | E073 | 14530 |
chr2 | 40646584 | 40646723 | E073 | 15229 |
chr2 | 40647891 | 40648017 | E073 | 16536 |
chr2 | 40680221 | 40680344 | E073 | 48866 |
chr2 | 40593479 | 40593611 | E081 | -37744 |
chr2 | 40593919 | 40594063 | E081 | -37292 |
chr2 | 40594292 | 40594414 | E081 | -36941 |
chr2 | 40594842 | 40595132 | E081 | -36223 |
chr2 | 40621074 | 40621173 | E081 | -10182 |
chr2 | 40621266 | 40621437 | E081 | -9918 |
chr2 | 40621562 | 40621733 | E081 | -9622 |
chr2 | 40621758 | 40622127 | E081 | -9228 |
chr2 | 40622170 | 40622713 | E081 | -8642 |
chr2 | 40622880 | 40623078 | E081 | -8277 |
chr2 | 40630466 | 40631036 | E081 | -319 |
chr2 | 40631185 | 40631520 | E081 | 0 |
chr2 | 40636779 | 40636837 | E081 | 5424 |
chr2 | 40636880 | 40637210 | E081 | 5525 |
chr2 | 40643116 | 40643169 | E081 | 11761 |
chr2 | 40645885 | 40646113 | E081 | 14530 |
chr2 | 40654365 | 40654566 | E081 | 23010 |
chr2 | 40665188 | 40665444 | E081 | 33833 |
chr2 | 40675572 | 40675707 | E081 | 44217 |
chr2 | 40680221 | 40680344 | E081 | 48866 |
chr2 | 40680346 | 40680656 | E081 | 48991 |
chr2 | 40590461 | 40590616 | E082 | -40739 |
chr2 | 40593479 | 40593611 | E082 | -37744 |
chr2 | 40593919 | 40594063 | E082 | -37292 |
chr2 | 40621266 | 40621437 | E082 | -9918 |
chr2 | 40621562 | 40621733 | E082 | -9622 |
chr2 | 40621758 | 40622127 | E082 | -9228 |
chr2 | 40622170 | 40622713 | E082 | -8642 |
chr2 | 40625246 | 40625328 | E082 | -6027 |
chr2 | 40630466 | 40631036 | E082 | -319 |
chr2 | 40631185 | 40631520 | E082 | 0 |
chr2 | 40632632 | 40632926 | E082 | 1277 |
chr2 | 40645655 | 40645870 | E082 | 14300 |
chr2 | 40645885 | 40646113 | E082 | 14530 |
chr2 | 40646445 | 40646575 | E082 | 15090 |
chr2 | 40646584 | 40646723 | E082 | 15229 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 40677123 | 40679808 | E067 | 45768 |
chr2 | 40679841 | 40680126 | E067 | 48486 |
chr2 | 40591236 | 40591565 | E068 | -39790 |
chr2 | 40631735 | 40632015 | E068 | 380 |
chr2 | 40677123 | 40679808 | E068 | 45768 |
chr2 | 40679841 | 40680126 | E068 | 48486 |
chr2 | 40631735 | 40632015 | E069 | 380 |
chr2 | 40677123 | 40679808 | E069 | 45768 |
chr2 | 40679841 | 40680126 | E069 | 48486 |
chr2 | 40677123 | 40679808 | E070 | 45768 |
chr2 | 40679841 | 40680126 | E070 | 48486 |
chr2 | 40631735 | 40632015 | E071 | 380 |
chr2 | 40677123 | 40679808 | E071 | 45768 |
chr2 | 40677123 | 40679808 | E072 | 45768 |
chr2 | 40679841 | 40680126 | E072 | 48486 |
chr2 | 40677123 | 40679808 | E073 | 45768 |
chr2 | 40679841 | 40680126 | E073 | 48486 |
chr2 | 40631735 | 40632015 | E074 | 380 |
chr2 | 40677123 | 40679808 | E074 | 45768 |
chr2 | 40679841 | 40680126 | E074 | 48486 |
chr2 | 40677123 | 40679808 | E081 | 45768 |
chr2 | 40679841 | 40680126 | E081 | 48486 |
chr2 | 40631735 | 40632015 | E082 | 380 |
chr2 | 40677123 | 40679808 | E082 | 45768 |
chr2 | 40679841 | 40680126 | E082 | 48486 |