Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.158707938T>C |
GRCh37.p13 chr 2 | NC_000002.11:g.159564450T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PKP4-AS1 transcript | NR_135242.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.930 | C=0.070 |
1000Genomes | American | Sub | 694 | T=0.890 | C=0.110 |
1000Genomes | East Asian | Sub | 1008 | T=0.943 | C=0.057 |
1000Genomes | Europe | Sub | 1006 | T=0.789 | C=0.211 |
1000Genomes | Global | Study-wide | 5008 | T=0.887 | C=0.113 |
1000Genomes | South Asian | Sub | 978 | T=0.870 | C=0.130 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.789 | C=0.211 |
The Genome Aggregation Database | African | Sub | 8726 | T=0.909 | C=0.091 |
The Genome Aggregation Database | American | Sub | 834 | T=0.890 | C=0.110 |
The Genome Aggregation Database | East Asian | Sub | 1620 | T=0.973 | C=0.027 |
The Genome Aggregation Database | Europe | Sub | 18484 | T=0.812 | C=0.187 |
The Genome Aggregation Database | Global | Study-wide | 29966 | T=0.849 | C=0.150 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.680 | C=0.320 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.858 | C=0.141 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.784 | C=0.216 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10489982 | 0.00092 | alcohol dependence | 20201924 |
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 | 159521992 | 159522054 | E067 | -42396 |
chr2 | 159522132 | 159522882 | E067 | -41568 |
chr2 | 159523934 | 159524035 | E067 | -40415 |
chr2 | 159524101 | 159524369 | E067 | -40081 |
chr2 | 159524495 | 159525316 | E067 | -39134 |
chr2 | 159532960 | 159533026 | E067 | -31424 |
chr2 | 159533346 | 159533476 | E067 | -30974 |
chr2 | 159533687 | 159533742 | E067 | -30708 |
chr2 | 159534076 | 159534377 | E067 | -30073 |
chr2 | 159542219 | 159543461 | E067 | -20989 |
chr2 | 159579084 | 159579164 | E067 | 14634 |
chr2 | 159579295 | 159579372 | E067 | 14845 |
chr2 | 159579521 | 159579634 | E067 | 15071 |
chr2 | 159579890 | 159580018 | E067 | 15440 |
chr2 | 159580039 | 159580092 | E067 | 15589 |
chr2 | 159580488 | 159580645 | E067 | 16038 |
chr2 | 159580655 | 159580768 | E067 | 16205 |
chr2 | 159580818 | 159581197 | E067 | 16368 |
chr2 | 159581285 | 159581955 | E067 | 16835 |
chr2 | 159581986 | 159582383 | E067 | 17536 |
chr2 | 159582480 | 159582561 | E067 | 18030 |
chr2 | 159583329 | 159583395 | E067 | 18879 |
chr2 | 159583442 | 159583546 | E067 | 18992 |
chr2 | 159583635 | 159583817 | E067 | 19185 |
chr2 | 159586412 | 159586616 | E067 | 21962 |
chr2 | 159586741 | 159586932 | E067 | 22291 |
chr2 | 159587149 | 159587323 | E067 | 22699 |
chr2 | 159601506 | 159602545 | E067 | 37056 |
chr2 | 159602700 | 159602767 | E067 | 38250 |
chr2 | 159515000 | 159515149 | E068 | -49301 |
chr2 | 159515315 | 159515401 | E068 | -49049 |
chr2 | 159523934 | 159524035 | E068 | -40415 |
chr2 | 159524101 | 159524369 | E068 | -40081 |
chr2 | 159524495 | 159525316 | E068 | -39134 |
chr2 | 159527962 | 159528218 | E068 | -36232 |
chr2 | 159528253 | 159528306 | E068 | -36144 |
chr2 | 159532960 | 159533026 | E068 | -31424 |
chr2 | 159533346 | 159533476 | E068 | -30974 |
chr2 | 159542219 | 159543461 | E068 | -20989 |
chr2 | 159572555 | 159573415 | E068 | 8105 |
chr2 | 159573585 | 159573625 | E068 | 9135 |
chr2 | 159579084 | 159579164 | E068 | 14634 |
chr2 | 159579295 | 159579372 | E068 | 14845 |
chr2 | 159579890 | 159580018 | E068 | 15440 |
chr2 | 159580039 | 159580092 | E068 | 15589 |
chr2 | 159580488 | 159580645 | E068 | 16038 |
chr2 | 159580655 | 159580768 | E068 | 16205 |
chr2 | 159580818 | 159581197 | E068 | 16368 |
chr2 | 159581285 | 159581955 | E068 | 16835 |
chr2 | 159581986 | 159582383 | E068 | 17536 |
chr2 | 159582480 | 159582561 | E068 | 18030 |
chr2 | 159583329 | 159583395 | E068 | 18879 |
chr2 | 159583442 | 159583546 | E068 | 18992 |
chr2 | 159583635 | 159583817 | E068 | 19185 |
chr2 | 159584871 | 159584929 | E068 | 20421 |
chr2 | 159585360 | 159585578 | E068 | 20910 |
chr2 | 159585632 | 159585690 | E068 | 21182 |
chr2 | 159585815 | 159585891 | E068 | 21365 |
chr2 | 159585992 | 159586048 | E068 | 21542 |
chr2 | 159586172 | 159586237 | E068 | 21722 |
chr2 | 159586412 | 159586616 | E068 | 21962 |
chr2 | 159586741 | 159586932 | E068 | 22291 |
chr2 | 159587149 | 159587323 | E068 | 22699 |
chr2 | 159587988 | 159588080 | E068 | 23538 |
chr2 | 159599168 | 159599218 | E068 | 34718 |
chr2 | 159599369 | 159599590 | E068 | 34919 |
chr2 | 159600110 | 159600383 | E068 | 35660 |
chr2 | 159600434 | 159600777 | E068 | 35984 |
chr2 | 159602700 | 159602767 | E068 | 38250 |
chr2 | 159523934 | 159524035 | E069 | -40415 |
chr2 | 159524101 | 159524369 | E069 | -40081 |
chr2 | 159524495 | 159525316 | E069 | -39134 |
chr2 | 159527962 | 159528218 | E069 | -36232 |
chr2 | 159528253 | 159528306 | E069 | -36144 |
chr2 | 159532960 | 159533026 | E069 | -31424 |
chr2 | 159533346 | 159533476 | E069 | -30974 |
chr2 | 159573585 | 159573625 | E069 | 9135 |
chr2 | 159574010 | 159574111 | E069 | 9560 |
chr2 | 159579084 | 159579164 | E069 | 14634 |
chr2 | 159579295 | 159579372 | E069 | 14845 |
chr2 | 159579521 | 159579634 | E069 | 15071 |
chr2 | 159579890 | 159580018 | E069 | 15440 |
chr2 | 159580039 | 159580092 | E069 | 15589 |
chr2 | 159580488 | 159580645 | E069 | 16038 |
chr2 | 159580655 | 159580768 | E069 | 16205 |
chr2 | 159580818 | 159581197 | E069 | 16368 |
chr2 | 159581285 | 159581955 | E069 | 16835 |
chr2 | 159581986 | 159582383 | E069 | 17536 |
chr2 | 159582480 | 159582561 | E069 | 18030 |
chr2 | 159583329 | 159583395 | E069 | 18879 |
chr2 | 159583442 | 159583546 | E069 | 18992 |
chr2 | 159583635 | 159583817 | E069 | 19185 |
chr2 | 159584871 | 159584929 | E069 | 20421 |
chr2 | 159585360 | 159585578 | E069 | 20910 |
chr2 | 159585632 | 159585690 | E069 | 21182 |
chr2 | 159585815 | 159585891 | E069 | 21365 |
chr2 | 159585992 | 159586048 | E069 | 21542 |
chr2 | 159586172 | 159586237 | E069 | 21722 |
chr2 | 159586412 | 159586616 | E069 | 21962 |
chr2 | 159586741 | 159586932 | E069 | 22291 |
chr2 | 159587149 | 159587323 | E069 | 22699 |
chr2 | 159599168 | 159599218 | E069 | 34718 |
chr2 | 159599369 | 159599590 | E069 | 34919 |
chr2 | 159600110 | 159600383 | E069 | 35660 |
chr2 | 159600434 | 159600777 | E069 | 35984 |
chr2 | 159602700 | 159602767 | E069 | 38250 |
chr2 | 159521992 | 159522054 | E070 | -42396 |
chr2 | 159522132 | 159522882 | E070 | -41568 |
chr2 | 159522975 | 159523025 | E070 | -41425 |
chr2 | 159527962 | 159528218 | E070 | -36232 |
chr2 | 159528253 | 159528306 | E070 | -36144 |
chr2 | 159532960 | 159533026 | E070 | -31424 |
chr2 | 159533346 | 159533476 | E070 | -30974 |
chr2 | 159533687 | 159533742 | E070 | -30708 |
chr2 | 159534076 | 159534377 | E070 | -30073 |
chr2 | 159534561 | 159534617 | E070 | -29833 |
chr2 | 159542219 | 159543461 | E070 | -20989 |
chr2 | 159572555 | 159573415 | E070 | 8105 |
chr2 | 159573585 | 159573625 | E070 | 9135 |
chr2 | 159579521 | 159579634 | E070 | 15071 |
chr2 | 159579890 | 159580018 | E070 | 15440 |
chr2 | 159580039 | 159580092 | E070 | 15589 |
chr2 | 159600110 | 159600383 | E070 | 35660 |
chr2 | 159600434 | 159600777 | E070 | 35984 |
chr2 | 159601506 | 159602545 | E070 | 37056 |
chr2 | 159521593 | 159521786 | E071 | -42664 |
chr2 | 159521992 | 159522054 | E071 | -42396 |
chr2 | 159522132 | 159522882 | E071 | -41568 |
chr2 | 159522975 | 159523025 | E071 | -41425 |
chr2 | 159523934 | 159524035 | E071 | -40415 |
chr2 | 159524101 | 159524369 | E071 | -40081 |
chr2 | 159532960 | 159533026 | E071 | -31424 |
chr2 | 159533346 | 159533476 | E071 | -30974 |
chr2 | 159533687 | 159533742 | E071 | -30708 |
chr2 | 159542219 | 159543461 | E071 | -20989 |
chr2 | 159579084 | 159579164 | E071 | 14634 |
chr2 | 159579295 | 159579372 | E071 | 14845 |
chr2 | 159579890 | 159580018 | E071 | 15440 |
chr2 | 159580039 | 159580092 | E071 | 15589 |
chr2 | 159580488 | 159580645 | E071 | 16038 |
chr2 | 159580655 | 159580768 | E071 | 16205 |
chr2 | 159580818 | 159581197 | E071 | 16368 |
chr2 | 159581285 | 159581955 | E071 | 16835 |
chr2 | 159581986 | 159582383 | E071 | 17536 |
chr2 | 159582480 | 159582561 | E071 | 18030 |
chr2 | 159583442 | 159583546 | E071 | 18992 |
chr2 | 159583635 | 159583817 | E071 | 19185 |
chr2 | 159584871 | 159584929 | E071 | 20421 |
chr2 | 159585360 | 159585578 | E071 | 20910 |
chr2 | 159585632 | 159585690 | E071 | 21182 |
chr2 | 159585815 | 159585891 | E071 | 21365 |
chr2 | 159585992 | 159586048 | E071 | 21542 |
chr2 | 159586172 | 159586237 | E071 | 21722 |
chr2 | 159586412 | 159586616 | E071 | 21962 |
chr2 | 159586741 | 159586932 | E071 | 22291 |
chr2 | 159587149 | 159587323 | E071 | 22699 |
chr2 | 159600110 | 159600383 | E071 | 35660 |
chr2 | 159600434 | 159600777 | E071 | 35984 |
chr2 | 159602700 | 159602767 | E071 | 38250 |
chr2 | 159521593 | 159521786 | E072 | -42664 |
chr2 | 159521992 | 159522054 | E072 | -42396 |
chr2 | 159522132 | 159522882 | E072 | -41568 |
chr2 | 159522975 | 159523025 | E072 | -41425 |
chr2 | 159523934 | 159524035 | E072 | -40415 |
chr2 | 159524101 | 159524369 | E072 | -40081 |
chr2 | 159527962 | 159528218 | E072 | -36232 |
chr2 | 159528253 | 159528306 | E072 | -36144 |
chr2 | 159533346 | 159533476 | E072 | -30974 |
chr2 | 159542219 | 159543461 | E072 | -20989 |
chr2 | 159574010 | 159574111 | E072 | 9560 |
chr2 | 159579084 | 159579164 | E072 | 14634 |
chr2 | 159579890 | 159580018 | E072 | 15440 |
chr2 | 159580039 | 159580092 | E072 | 15589 |
chr2 | 159580488 | 159580645 | E072 | 16038 |
chr2 | 159581285 | 159581955 | E072 | 16835 |
chr2 | 159581986 | 159582383 | E072 | 17536 |
chr2 | 159582480 | 159582561 | E072 | 18030 |
chr2 | 159583329 | 159583395 | E072 | 18879 |
chr2 | 159583442 | 159583546 | E072 | 18992 |
chr2 | 159583635 | 159583817 | E072 | 19185 |
chr2 | 159585632 | 159585690 | E072 | 21182 |
chr2 | 159585815 | 159585891 | E072 | 21365 |
chr2 | 159585992 | 159586048 | E072 | 21542 |
chr2 | 159586172 | 159586237 | E072 | 21722 |
chr2 | 159586412 | 159586616 | E072 | 21962 |
chr2 | 159586741 | 159586932 | E072 | 22291 |
chr2 | 159587149 | 159587323 | E072 | 22699 |
chr2 | 159599369 | 159599590 | E072 | 34919 |
chr2 | 159600110 | 159600383 | E072 | 35660 |
chr2 | 159600434 | 159600777 | E072 | 35984 |
chr2 | 159602700 | 159602767 | E072 | 38250 |
chr2 | 159523934 | 159524035 | E073 | -40415 |
chr2 | 159524101 | 159524369 | E073 | -40081 |
chr2 | 159527962 | 159528218 | E073 | -36232 |
chr2 | 159528253 | 159528306 | E073 | -36144 |
chr2 | 159533346 | 159533476 | E073 | -30974 |
chr2 | 159542219 | 159543461 | E073 | -20989 |
chr2 | 159579084 | 159579164 | E073 | 14634 |
chr2 | 159579295 | 159579372 | E073 | 14845 |
chr2 | 159579521 | 159579634 | E073 | 15071 |
chr2 | 159579890 | 159580018 | E073 | 15440 |
chr2 | 159580039 | 159580092 | E073 | 15589 |
chr2 | 159580488 | 159580645 | E073 | 16038 |
chr2 | 159580655 | 159580768 | E073 | 16205 |
chr2 | 159580818 | 159581197 | E073 | 16368 |
chr2 | 159582480 | 159582561 | E073 | 18030 |
chr2 | 159583329 | 159583395 | E073 | 18879 |
chr2 | 159600110 | 159600383 | E073 | 35660 |
chr2 | 159600434 | 159600777 | E073 | 35984 |
chr2 | 159601506 | 159602545 | E073 | 37056 |
chr2 | 159527962 | 159528218 | E074 | -36232 |
chr2 | 159528253 | 159528306 | E074 | -36144 |
chr2 | 159532960 | 159533026 | E074 | -31424 |
chr2 | 159533346 | 159533476 | E074 | -30974 |
chr2 | 159542219 | 159543461 | E074 | -20989 |
chr2 | 159572555 | 159573415 | E074 | 8105 |
chr2 | 159579084 | 159579164 | E074 | 14634 |
chr2 | 159579295 | 159579372 | E074 | 14845 |
chr2 | 159579521 | 159579634 | E074 | 15071 |
chr2 | 159579890 | 159580018 | E074 | 15440 |
chr2 | 159580039 | 159580092 | E074 | 15589 |
chr2 | 159581285 | 159581955 | E074 | 16835 |
chr2 | 159581986 | 159582383 | E074 | 17536 |
chr2 | 159582480 | 159582561 | E074 | 18030 |
chr2 | 159583329 | 159583395 | E074 | 18879 |
chr2 | 159583442 | 159583546 | E074 | 18992 |
chr2 | 159583635 | 159583817 | E074 | 19185 |
chr2 | 159584871 | 159584929 | E074 | 20421 |
chr2 | 159585815 | 159585891 | E074 | 21365 |
chr2 | 159585992 | 159586048 | E074 | 21542 |
chr2 | 159586172 | 159586237 | E074 | 21722 |
chr2 | 159586412 | 159586616 | E074 | 21962 |
chr2 | 159586741 | 159586932 | E074 | 22291 |
chr2 | 159587149 | 159587323 | E074 | 22699 |
chr2 | 159600110 | 159600383 | E074 | 35660 |
chr2 | 159600434 | 159600777 | E074 | 35984 |
chr2 | 159602700 | 159602767 | E074 | 38250 |
chr2 | 159520098 | 159520235 | E081 | -44215 |
chr2 | 159521593 | 159521786 | E081 | -42664 |
chr2 | 159521992 | 159522054 | E081 | -42396 |
chr2 | 159522132 | 159522882 | E081 | -41568 |
chr2 | 159522975 | 159523025 | E081 | -41425 |
chr2 | 159532960 | 159533026 | E081 | -31424 |
chr2 | 159601506 | 159602545 | E081 | 37056 |
chr2 | 159611850 | 159612222 | E081 | 47400 |
chr2 | 159612327 | 159612538 | E081 | 47877 |
chr2 | 159521593 | 159521786 | E082 | -42664 |
chr2 | 159521992 | 159522054 | E082 | -42396 |
chr2 | 159522132 | 159522882 | E082 | -41568 |
chr2 | 159522975 | 159523025 | E082 | -41425 |
chr2 | 159601506 | 159602545 | E082 | 37056 |
chr2 | 159611850 | 159612222 | E082 | 47400 |
chr2 | 159612327 | 159612538 | E082 | 47877 |