Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.79601644T>C |
GRCh37.p13 chr 6 | NC_000006.11:g.80311361T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SH3BGRL2 transcript | NM_031469.3:c. | N/A | Genic Upstream Transcript Variant |
LOC112267857 transcript variant X1 | XM_011536282.2:c. | N/A | Intron Variant |
SH3BGRL2 transcript variant X2 | XM_017011344.1:c. | N/A | Intron Variant |
LOC112267857 transcript variant X2 | XM_017011345.1:c. | N/A | Intron Variant |
SH3BGRL2 transcript variant X1 | XM_011536165.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.892 | C=0.108 |
1000Genomes | American | Sub | 694 | T=0.760 | C=0.240 |
1000Genomes | East Asian | Sub | 1008 | T=0.846 | C=0.154 |
1000Genomes | Europe | Sub | 1006 | T=0.811 | C=0.189 |
1000Genomes | Global | Study-wide | 5008 | T=0.823 | C=0.177 |
1000Genomes | South Asian | Sub | 978 | T=0.760 | C=0.240 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.810 | C=0.190 |
The Genome Aggregation Database | African | Sub | 8732 | T=0.889 | C=0.111 |
The Genome Aggregation Database | American | Sub | 832 | T=0.780 | C=0.220 |
The Genome Aggregation Database | East Asian | Sub | 1616 | T=0.832 | C=0.168 |
The Genome Aggregation Database | Europe | Sub | 18484 | T=0.808 | C=0.191 |
The Genome Aggregation Database | Global | Study-wide | 29966 | T=0.832 | C=0.167 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.870 | C=0.130 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.834 | C=0.165 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.806 | C=0.194 |
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 |
---|---|---|---|
rs1394289 | 0.00079 | 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 |
---|---|---|---|---|
cg20980108 | chr6:80316821 | -0.0440989667066198 | 3.1290e-12 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr6 | 80309645 | 80309865 | E067 | -1496 |
chr6 | 80310010 | 80310241 | E067 | -1120 |
chr6 | 80312377 | 80312464 | E067 | 1016 |
chr6 | 80312697 | 80312845 | E067 | 1336 |
chr6 | 80322266 | 80322475 | E067 | 10905 |
chr6 | 80322633 | 80323002 | E067 | 11272 |
chr6 | 80349921 | 80350027 | E067 | 38560 |
chr6 | 80350126 | 80350304 | E067 | 38765 |
chr6 | 80350305 | 80350359 | E067 | 38944 |
chr6 | 80350367 | 80350454 | E067 | 39006 |
chr6 | 80353135 | 80353229 | E067 | 41774 |
chr6 | 80358186 | 80358384 | E067 | 46825 |
chr6 | 80358907 | 80358980 | E067 | 47546 |
chr6 | 80359363 | 80359683 | E067 | 48002 |
chr6 | 80359819 | 80360022 | E067 | 48458 |
chr6 | 80309645 | 80309865 | E068 | -1496 |
chr6 | 80310010 | 80310241 | E068 | -1120 |
chr6 | 80310396 | 80310472 | E068 | -889 |
chr6 | 80310546 | 80311005 | E068 | -356 |
chr6 | 80312377 | 80312464 | E068 | 1016 |
chr6 | 80312697 | 80312845 | E068 | 1336 |
chr6 | 80312947 | 80313071 | E068 | 1586 |
chr6 | 80316772 | 80316948 | E068 | 5411 |
chr6 | 80316990 | 80317084 | E068 | 5629 |
chr6 | 80317258 | 80317308 | E068 | 5897 |
chr6 | 80317978 | 80318065 | E068 | 6617 |
chr6 | 80318193 | 80318315 | E068 | 6832 |
chr6 | 80344343 | 80344448 | E068 | 32982 |
chr6 | 80344516 | 80344699 | E068 | 33155 |
chr6 | 80349921 | 80350027 | E068 | 38560 |
chr6 | 80350126 | 80350304 | E068 | 38765 |
chr6 | 80350305 | 80350359 | E068 | 38944 |
chr6 | 80350367 | 80350454 | E068 | 39006 |
chr6 | 80350534 | 80350574 | E068 | 39173 |
chr6 | 80350769 | 80350842 | E068 | 39408 |
chr6 | 80352248 | 80352340 | E068 | 40887 |
chr6 | 80353135 | 80353229 | E068 | 41774 |
chr6 | 80358907 | 80358980 | E068 | 47546 |
chr6 | 80359363 | 80359683 | E068 | 48002 |
chr6 | 80312377 | 80312464 | E069 | 1016 |
chr6 | 80322266 | 80322475 | E069 | 10905 |
chr6 | 80322633 | 80323002 | E069 | 11272 |
chr6 | 80323107 | 80323157 | E069 | 11746 |
chr6 | 80339987 | 80340242 | E069 | 28626 |
chr6 | 80349921 | 80350027 | E069 | 38560 |
chr6 | 80350126 | 80350304 | E069 | 38765 |
chr6 | 80350305 | 80350359 | E069 | 38944 |
chr6 | 80350367 | 80350454 | E069 | 39006 |
chr6 | 80350534 | 80350574 | E069 | 39173 |
chr6 | 80350769 | 80350842 | E069 | 39408 |
chr6 | 80353135 | 80353229 | E069 | 41774 |
chr6 | 80322266 | 80322475 | E070 | 10905 |
chr6 | 80322633 | 80323002 | E070 | 11272 |
chr6 | 80316772 | 80316948 | E071 | 5411 |
chr6 | 80316990 | 80317084 | E071 | 5629 |
chr6 | 80344516 | 80344699 | E071 | 33155 |
chr6 | 80349921 | 80350027 | E071 | 38560 |
chr6 | 80350126 | 80350304 | E071 | 38765 |
chr6 | 80350305 | 80350359 | E071 | 38944 |
chr6 | 80350367 | 80350454 | E071 | 39006 |
chr6 | 80350534 | 80350574 | E071 | 39173 |
chr6 | 80353135 | 80353229 | E071 | 41774 |
chr6 | 80322266 | 80322475 | E072 | 10905 |
chr6 | 80322633 | 80323002 | E072 | 11272 |
chr6 | 80344811 | 80345274 | E072 | 33450 |
chr6 | 80349921 | 80350027 | E072 | 38560 |
chr6 | 80350126 | 80350304 | E072 | 38765 |
chr6 | 80352248 | 80352340 | E072 | 40887 |
chr6 | 80353135 | 80353229 | E072 | 41774 |
chr6 | 80358186 | 80358384 | E072 | 46825 |
chr6 | 80279893 | 80280957 | E073 | -30404 |
chr6 | 80309645 | 80309865 | E073 | -1496 |
chr6 | 80310396 | 80310472 | E073 | -889 |
chr6 | 80312377 | 80312464 | E073 | 1016 |
chr6 | 80312697 | 80312845 | E073 | 1336 |
chr6 | 80312947 | 80313071 | E073 | 1586 |
chr6 | 80322266 | 80322475 | E074 | 10905 |
chr6 | 80349921 | 80350027 | E074 | 38560 |
chr6 | 80350126 | 80350304 | E074 | 38765 |
chr6 | 80350305 | 80350359 | E074 | 38944 |
chr6 | 80350367 | 80350454 | E074 | 39006 |
chr6 | 80350534 | 80350574 | E074 | 39173 |
chr6 | 80350769 | 80350842 | E074 | 39408 |
chr6 | 80353135 | 80353229 | E074 | 41774 |
chr6 | 80359819 | 80360022 | E074 | 48458 |
chr6 | 80278848 | 80279052 | E081 | -32309 |
chr6 | 80279089 | 80279171 | E081 | -32190 |
chr6 | 80279289 | 80279406 | E081 | -31955 |
chr6 | 80279484 | 80279546 | E081 | -31815 |
chr6 | 80279580 | 80279819 | E081 | -31542 |
chr6 | 80279893 | 80280957 | E081 | -30404 |
chr6 | 80312377 | 80312464 | E081 | 1016 |
chr6 | 80312697 | 80312845 | E081 | 1336 |
chr6 | 80344343 | 80344448 | E081 | 32982 |
chr6 | 80344516 | 80344699 | E081 | 33155 |
chr6 | 80349921 | 80350027 | E081 | 38560 |
chr6 | 80350126 | 80350304 | E081 | 38765 |
chr6 | 80350305 | 80350359 | E081 | 38944 |
chr6 | 80350367 | 80350454 | E081 | 39006 |
chr6 | 80350534 | 80350574 | E081 | 39173 |
chr6 | 80350769 | 80350842 | E081 | 39408 |
chr6 | 80274462 | 80274832 | E082 | -36529 |
chr6 | 80281029 | 80281079 | E082 | -30282 |
chr6 | 80312377 | 80312464 | E082 | 1016 |
chr6 | 80312697 | 80312845 | E082 | 1336 |
chr6 | 80312947 | 80313071 | E082 | 1586 |
chr6 | 80344343 | 80344448 | E082 | 32982 |
chr6 | 80344516 | 80344699 | E082 | 33155 |
chr6 | 80344811 | 80345274 | E082 | 33450 |
chr6 | 80349921 | 80350027 | E082 | 38560 |
chr6 | 80350126 | 80350304 | E082 | 38765 |
chr6 | 80350305 | 80350359 | E082 | 38944 |
chr6 | 80350367 | 80350454 | E082 | 39006 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr6 | 80340464 | 80341763 | E067 | 29103 |
chr6 | 80342439 | 80342580 | E067 | 31078 |
chr6 | 80342769 | 80342854 | E067 | 31408 |
chr6 | 80340464 | 80341763 | E068 | 29103 |
chr6 | 80342439 | 80342580 | E068 | 31078 |
chr6 | 80342769 | 80342854 | E068 | 31408 |
chr6 | 80340464 | 80341763 | E069 | 29103 |
chr6 | 80340464 | 80341763 | E070 | 29103 |
chr6 | 80340464 | 80341763 | E071 | 29103 |
chr6 | 80342439 | 80342580 | E071 | 31078 |
chr6 | 80340464 | 80341763 | E072 | 29103 |
chr6 | 80342439 | 80342580 | E072 | 31078 |
chr6 | 80342769 | 80342854 | E072 | 31408 |
chr6 | 80340464 | 80341763 | E073 | 29103 |
chr6 | 80342439 | 80342580 | E073 | 31078 |
chr6 | 80342769 | 80342854 | E073 | 31408 |
chr6 | 80340464 | 80341763 | E074 | 29103 |
chr6 | 80340464 | 80341763 | E081 | 29103 |
chr6 | 80340464 | 80341763 | E082 | 29103 |
chr6 | 80342439 | 80342580 | E082 | 31078 |
chr6 | 80342769 | 80342854 | E082 | 31408 |