Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 11 | NC_000011.10:g.131957812A>C |
GRCh37.p13 chr 11 | NC_000011.9:g.131827706A>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NTM transcript variant 2 | NM_001048209.1:c. | N/A | Intron Variant |
NTM transcript variant 3 | NM_001144058.1:c. | N/A | Intron Variant |
NTM transcript variant 4 | NM_001144059.1:c. | N/A | Intron Variant |
NTM transcript variant 1 | NM_016522.2:c. | N/A | Intron Variant |
NTM transcript variant X9 | XM_005271580.3:c. | N/A | Intron Variant |
NTM transcript variant X6 | XM_005271581.3:c. | N/A | Intron Variant |
NTM transcript variant X12 | XM_005271582.3:c. | N/A | Intron Variant |
NTM transcript variant X13 | XM_006718855.3:c. | N/A | Intron Variant |
NTM transcript variant X23 | XM_006718857.3:c. | N/A | Intron Variant |
NTM transcript variant X16 | XM_011542861.2:c. | N/A | Intron Variant |
NTM transcript variant X1 | XM_017017851.1:c. | N/A | Intron Variant |
NTM transcript variant X3 | XM_017017852.1:c. | N/A | Intron Variant |
NTM transcript variant X4 | XM_017017853.1:c. | N/A | Intron Variant |
NTM transcript variant X4 | XM_017017854.1:c. | N/A | Intron Variant |
NTM transcript variant X7 | XM_017017855.1:c. | N/A | Intron Variant |
NTM transcript variant X8 | XM_017017856.1:c. | N/A | Intron Variant |
NTM transcript variant X11 | XM_017017857.1:c. | N/A | Intron Variant |
NTM transcript variant X14 | XM_017017858.1:c. | N/A | Intron Variant |
NTM transcript variant X11 | XM_017017859.1:c. | N/A | Intron Variant |
NTM transcript variant X16 | XM_017017860.1:c. | N/A | Intron Variant |
NTM transcript variant X17 | XM_017017861.1:c. | N/A | Intron Variant |
NTM transcript variant X18 | XM_017017862.1:c. | N/A | Intron Variant |
NTM transcript variant X15 | XM_017017863.1:c. | N/A | Intron Variant |
NTM transcript variant X21 | XM_017017864.1:c. | N/A | Intron Variant |
NTM transcript variant X22 | XM_017017865.1:c. | N/A | Intron Variant |
NTM transcript variant X24 | XM_017017866.1:c. | N/A | Intron Variant |
NTM transcript variant X29 | XM_017017867.1:c. | N/A | Genic Upstream Transcript Variant |
NTM transcript variant X1 | XR_001747893.1:n. | N/A | Intron Variant |
NTM transcript variant X8 | XR_001747894.1:n. | N/A | Intron Variant |
NTM transcript variant X25 | XR_001747895.1:n. | N/A | Intron Variant |
NTM transcript variant X20 | XR_001747896.1:n. | N/A | Intron Variant |
NTM transcript variant X27 | XR_001747897.1:n. | N/A | Intron Variant |
NTM transcript variant X28 | XR_001747898.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.892 | C=0.108 |
1000Genomes | American | Sub | 694 | A=0.620 | C=0.380 |
1000Genomes | East Asian | Sub | 1008 | A=0.280 | C=0.720 |
1000Genomes | Europe | Sub | 1006 | A=0.755 | C=0.245 |
1000Genomes | Global | Study-wide | 5008 | A=0.653 | C=0.347 |
1000Genomes | South Asian | Sub | 978 | A=0.630 | C=0.370 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.757 | C=0.243 |
The Genome Aggregation Database | African | Sub | 8716 | A=0.880 | C=0.120 |
The Genome Aggregation Database | American | Sub | 836 | A=0.570 | C=0.430 |
The Genome Aggregation Database | East Asian | Sub | 1622 | A=0.264 | C=0.736 |
The Genome Aggregation Database | Europe | Sub | 18470 | A=0.737 | C=0.262 |
The Genome Aggregation Database | Global | Study-wide | 29944 | A=0.750 | C=0.250 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.830 | C=0.170 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.787 | C=0.212 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.773 | C=0.227 |
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 |
---|---|---|---|
rs471677 | 0.000645 | alcohol consumption (maxi-drinks) | 24277619 |
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 ) |
---|---|---|---|---|
chr11 | 131792742 | 131792818 | E067 | -34888 |
chr11 | 131793879 | 131794710 | E067 | -32996 |
chr11 | 131802470 | 131802773 | E067 | -24933 |
chr11 | 131802842 | 131803129 | E067 | -24577 |
chr11 | 131808159 | 131808597 | E067 | -19109 |
chr11 | 131858262 | 131858344 | E067 | 30556 |
chr11 | 131868820 | 131869323 | E067 | 41114 |
chr11 | 131869348 | 131869510 | E067 | 41642 |
chr11 | 131869536 | 131869586 | E067 | 41830 |
chr11 | 131870007 | 131870119 | E067 | 42301 |
chr11 | 131779353 | 131780021 | E068 | -47685 |
chr11 | 131784727 | 131784777 | E068 | -42929 |
chr11 | 131793879 | 131794710 | E068 | -32996 |
chr11 | 131802330 | 131802416 | E068 | -25290 |
chr11 | 131802470 | 131802773 | E068 | -24933 |
chr11 | 131802842 | 131803129 | E068 | -24577 |
chr11 | 131803273 | 131803364 | E068 | -24342 |
chr11 | 131808159 | 131808597 | E068 | -19109 |
chr11 | 131808695 | 131808771 | E068 | -18935 |
chr11 | 131812911 | 131812974 | E068 | -14732 |
chr11 | 131812996 | 131813098 | E068 | -14608 |
chr11 | 131813129 | 131813274 | E068 | -14432 |
chr11 | 131813278 | 131813534 | E068 | -14172 |
chr11 | 131813544 | 131813668 | E068 | -14038 |
chr11 | 131846827 | 131848930 | E068 | 19121 |
chr11 | 131854901 | 131855069 | E068 | 27195 |
chr11 | 131855140 | 131855225 | E068 | 27434 |
chr11 | 131855416 | 131855469 | E068 | 27710 |
chr11 | 131855526 | 131855745 | E068 | 27820 |
chr11 | 131868820 | 131869323 | E068 | 41114 |
chr11 | 131869348 | 131869510 | E068 | 41642 |
chr11 | 131869536 | 131869586 | E068 | 41830 |
chr11 | 131869716 | 131869823 | E068 | 42010 |
chr11 | 131870007 | 131870119 | E068 | 42301 |
chr11 | 131876517 | 131876578 | E068 | 48811 |
chr11 | 131876626 | 131876813 | E068 | 48920 |
chr11 | 131876867 | 131876919 | E068 | 49161 |
chr11 | 131787408 | 131787468 | E069 | -40238 |
chr11 | 131787512 | 131787601 | E069 | -40105 |
chr11 | 131787665 | 131788140 | E069 | -39566 |
chr11 | 131802330 | 131802416 | E069 | -25290 |
chr11 | 131802470 | 131802773 | E069 | -24933 |
chr11 | 131802842 | 131803129 | E069 | -24577 |
chr11 | 131803273 | 131803364 | E069 | -24342 |
chr11 | 131808159 | 131808597 | E069 | -19109 |
chr11 | 131808695 | 131808771 | E069 | -18935 |
chr11 | 131834585 | 131834682 | E069 | 6879 |
chr11 | 131834757 | 131834817 | E069 | 7051 |
chr11 | 131849542 | 131849611 | E069 | 21836 |
chr11 | 131868416 | 131868506 | E069 | 40710 |
chr11 | 131868820 | 131869323 | E069 | 41114 |
chr11 | 131869348 | 131869510 | E069 | 41642 |
chr11 | 131779353 | 131780021 | E070 | -47685 |
chr11 | 131801510 | 131801626 | E070 | -26080 |
chr11 | 131801922 | 131802009 | E070 | -25697 |
chr11 | 131802083 | 131802143 | E070 | -25563 |
chr11 | 131802330 | 131802416 | E070 | -25290 |
chr11 | 131802470 | 131802773 | E070 | -24933 |
chr11 | 131802842 | 131803129 | E070 | -24577 |
chr11 | 131810661 | 131810715 | E070 | -16991 |
chr11 | 131842428 | 131842672 | E070 | 14722 |
chr11 | 131843026 | 131843273 | E070 | 15320 |
chr11 | 131843286 | 131843374 | E070 | 15580 |
chr11 | 131846827 | 131848930 | E070 | 19121 |
chr11 | 131867842 | 131868369 | E070 | 40136 |
chr11 | 131868416 | 131868506 | E070 | 40710 |
chr11 | 131868820 | 131869323 | E070 | 41114 |
chr11 | 131869348 | 131869510 | E070 | 41642 |
chr11 | 131869536 | 131869586 | E070 | 41830 |
chr11 | 131779353 | 131780021 | E071 | -47685 |
chr11 | 131793879 | 131794710 | E071 | -32996 |
chr11 | 131798707 | 131798821 | E071 | -28885 |
chr11 | 131802330 | 131802416 | E071 | -25290 |
chr11 | 131802470 | 131802773 | E071 | -24933 |
chr11 | 131802842 | 131803129 | E071 | -24577 |
chr11 | 131808159 | 131808597 | E071 | -19109 |
chr11 | 131813278 | 131813534 | E071 | -14172 |
chr11 | 131813544 | 131813668 | E071 | -14038 |
chr11 | 131813686 | 131813780 | E071 | -13926 |
chr11 | 131814196 | 131814396 | E071 | -13310 |
chr11 | 131834105 | 131834155 | E071 | 6399 |
chr11 | 131834171 | 131834226 | E071 | 6465 |
chr11 | 131834585 | 131834682 | E071 | 6879 |
chr11 | 131834757 | 131834817 | E071 | 7051 |
chr11 | 131846827 | 131848930 | E071 | 19121 |
chr11 | 131848967 | 131849017 | E071 | 21261 |
chr11 | 131849542 | 131849611 | E071 | 21836 |
chr11 | 131850977 | 131851195 | E071 | 23271 |
chr11 | 131851218 | 131851513 | E071 | 23512 |
chr11 | 131851576 | 131851633 | E071 | 23870 |
chr11 | 131851678 | 131851728 | E071 | 23972 |
chr11 | 131851897 | 131852002 | E071 | 24191 |
chr11 | 131852042 | 131852521 | E071 | 24336 |
chr11 | 131867842 | 131868369 | E071 | 40136 |
chr11 | 131868416 | 131868506 | E071 | 40710 |
chr11 | 131868820 | 131869323 | E071 | 41114 |
chr11 | 131869348 | 131869510 | E071 | 41642 |
chr11 | 131869536 | 131869586 | E071 | 41830 |
chr11 | 131876517 | 131876578 | E071 | 48811 |
chr11 | 131876626 | 131876813 | E071 | 48920 |
chr11 | 131876867 | 131876919 | E071 | 49161 |
chr11 | 131877108 | 131877158 | E071 | 49402 |
chr11 | 131877234 | 131877325 | E071 | 49528 |
chr11 | 131877333 | 131877401 | E071 | 49627 |
chr11 | 131788158 | 131788249 | E072 | -39457 |
chr11 | 131788356 | 131788439 | E072 | -39267 |
chr11 | 131793879 | 131794710 | E072 | -32996 |
chr11 | 131794754 | 131795039 | E072 | -32667 |
chr11 | 131795154 | 131795231 | E072 | -32475 |
chr11 | 131802470 | 131802773 | E072 | -24933 |
chr11 | 131802842 | 131803129 | E072 | -24577 |
chr11 | 131803273 | 131803364 | E072 | -24342 |
chr11 | 131803615 | 131803700 | E072 | -24006 |
chr11 | 131808159 | 131808597 | E072 | -19109 |
chr11 | 131808695 | 131808771 | E072 | -18935 |
chr11 | 131834105 | 131834155 | E072 | 6399 |
chr11 | 131834171 | 131834226 | E072 | 6465 |
chr11 | 131834585 | 131834682 | E072 | 6879 |
chr11 | 131834757 | 131834817 | E072 | 7051 |
chr11 | 131835168 | 131835234 | E072 | 7462 |
chr11 | 131850582 | 131850690 | E072 | 22876 |
chr11 | 131850707 | 131850818 | E072 | 23001 |
chr11 | 131850842 | 131850927 | E072 | 23136 |
chr11 | 131850977 | 131851195 | E072 | 23271 |
chr11 | 131851218 | 131851513 | E072 | 23512 |
chr11 | 131852042 | 131852521 | E072 | 24336 |
chr11 | 131868820 | 131869323 | E072 | 41114 |
chr11 | 131869348 | 131869510 | E072 | 41642 |
chr11 | 131869536 | 131869586 | E072 | 41830 |
chr11 | 131876517 | 131876578 | E072 | 48811 |
chr11 | 131876626 | 131876813 | E072 | 48920 |
chr11 | 131876867 | 131876919 | E072 | 49161 |
chr11 | 131877108 | 131877158 | E072 | 49402 |
chr11 | 131877234 | 131877325 | E072 | 49528 |
chr11 | 131877333 | 131877401 | E072 | 49627 |
chr11 | 131779353 | 131780021 | E073 | -47685 |
chr11 | 131792207 | 131792406 | E073 | -35300 |
chr11 | 131792527 | 131792580 | E073 | -35126 |
chr11 | 131792742 | 131792818 | E073 | -34888 |
chr11 | 131793879 | 131794710 | E073 | -32996 |
chr11 | 131802842 | 131803129 | E073 | -24577 |
chr11 | 131803273 | 131803364 | E073 | -24342 |
chr11 | 131808159 | 131808597 | E073 | -19109 |
chr11 | 131834585 | 131834682 | E073 | 6879 |
chr11 | 131834757 | 131834817 | E073 | 7051 |
chr11 | 131868820 | 131869323 | E073 | 41114 |
chr11 | 131793879 | 131794710 | E074 | -32996 |
chr11 | 131802330 | 131802416 | E074 | -25290 |
chr11 | 131802470 | 131802773 | E074 | -24933 |
chr11 | 131802842 | 131803129 | E074 | -24577 |
chr11 | 131803273 | 131803364 | E074 | -24342 |
chr11 | 131803615 | 131803700 | E074 | -24006 |
chr11 | 131803815 | 131804477 | E074 | -23229 |
chr11 | 131804830 | 131804880 | E074 | -22826 |
chr11 | 131806283 | 131806412 | E074 | -21294 |
chr11 | 131806552 | 131806651 | E074 | -21055 |
chr11 | 131806722 | 131806772 | E074 | -20934 |
chr11 | 131807461 | 131807511 | E074 | -20195 |
chr11 | 131808159 | 131808597 | E074 | -19109 |
chr11 | 131808695 | 131808771 | E074 | -18935 |
chr11 | 131809034 | 131809084 | E074 | -18622 |
chr11 | 131809170 | 131809224 | E074 | -18482 |
chr11 | 131812996 | 131813098 | E074 | -14608 |
chr11 | 131813129 | 131813274 | E074 | -14432 |
chr11 | 131813278 | 131813534 | E074 | -14172 |
chr11 | 131813544 | 131813668 | E074 | -14038 |
chr11 | 131813686 | 131813780 | E074 | -13926 |
chr11 | 131826264 | 131826486 | E074 | -1220 |
chr11 | 131848967 | 131849017 | E074 | 21261 |
chr11 | 131849542 | 131849611 | E074 | 21836 |
chr11 | 131851218 | 131851513 | E074 | 23512 |
chr11 | 131851576 | 131851633 | E074 | 23870 |
chr11 | 131851678 | 131851728 | E074 | 23972 |
chr11 | 131851897 | 131852002 | E074 | 24191 |
chr11 | 131852042 | 131852521 | E074 | 24336 |
chr11 | 131855526 | 131855745 | E074 | 27820 |
chr11 | 131855775 | 131856316 | E074 | 28069 |
chr11 | 131868820 | 131869323 | E074 | 41114 |
chr11 | 131869348 | 131869510 | E074 | 41642 |
chr11 | 131869536 | 131869586 | E074 | 41830 |
chr11 | 131877234 | 131877325 | E074 | 49528 |
chr11 | 131877333 | 131877401 | E074 | 49627 |
chr11 | 131779353 | 131780021 | E081 | -47685 |
chr11 | 131783114 | 131783202 | E081 | -44504 |
chr11 | 131783286 | 131783429 | E081 | -44277 |
chr11 | 131783816 | 131783939 | E081 | -43767 |
chr11 | 131783952 | 131784038 | E081 | -43668 |
chr11 | 131784247 | 131784474 | E081 | -43232 |
chr11 | 131787512 | 131787601 | E081 | -40105 |
chr11 | 131787665 | 131788140 | E081 | -39566 |
chr11 | 131788158 | 131788249 | E081 | -39457 |
chr11 | 131788356 | 131788439 | E081 | -39267 |
chr11 | 131814196 | 131814396 | E081 | -13310 |
chr11 | 131867545 | 131867705 | E081 | 39839 |
chr11 | 131867842 | 131868369 | E081 | 40136 |
chr11 | 131868416 | 131868506 | E081 | 40710 |
chr11 | 131868820 | 131869323 | E081 | 41114 |
chr11 | 131869348 | 131869510 | E081 | 41642 |
chr11 | 131869536 | 131869586 | E081 | 41830 |
chr11 | 131813129 | 131813274 | E082 | -14432 |
chr11 | 131813278 | 131813534 | E082 | -14172 |
chr11 | 131813544 | 131813668 | E082 | -14038 |
chr11 | 131813686 | 131813780 | E082 | -13926 |
chr11 | 131814196 | 131814396 | E082 | -13310 |
chr11 | 131855416 | 131855469 | E082 | 27710 |
chr11 | 131855526 | 131855745 | E082 | 27820 |
chr11 | 131855775 | 131856316 | E082 | 28069 |
chr11 | 131868820 | 131869323 | E082 | 41114 |
chr11 | 131869348 | 131869510 | E082 | 41642 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr11 | 131780027 | 131781390 | E067 | -46316 |
chr11 | 131781514 | 131781754 | E067 | -45952 |
chr11 | 131781769 | 131781992 | E067 | -45714 |
chr11 | 131782031 | 131782351 | E067 | -45355 |
chr11 | 131780027 | 131781390 | E068 | -46316 |
chr11 | 131781514 | 131781754 | E068 | -45952 |
chr11 | 131781769 | 131781992 | E068 | -45714 |
chr11 | 131782031 | 131782351 | E068 | -45355 |
chr11 | 131780027 | 131781390 | E069 | -46316 |
chr11 | 131781514 | 131781754 | E069 | -45952 |
chr11 | 131781769 | 131781992 | E069 | -45714 |
chr11 | 131782031 | 131782351 | E069 | -45355 |
chr11 | 131780027 | 131781390 | E070 | -46316 |
chr11 | 131780027 | 131781390 | E071 | -46316 |
chr11 | 131781514 | 131781754 | E071 | -45952 |
chr11 | 131781769 | 131781992 | E071 | -45714 |
chr11 | 131782031 | 131782351 | E071 | -45355 |
chr11 | 131780027 | 131781390 | E072 | -46316 |
chr11 | 131781514 | 131781754 | E072 | -45952 |
chr11 | 131781769 | 131781992 | E072 | -45714 |
chr11 | 131782031 | 131782351 | E072 | -45355 |
chr11 | 131780027 | 131781390 | E073 | -46316 |
chr11 | 131781514 | 131781754 | E073 | -45952 |
chr11 | 131781769 | 131781992 | E073 | -45714 |
chr11 | 131782031 | 131782351 | E073 | -45355 |
chr11 | 131780027 | 131781390 | E074 | -46316 |
chr11 | 131780027 | 131781390 | E082 | -46316 |
chr11 | 131781514 | 131781754 | E082 | -45952 |
chr11 | 131781769 | 131781992 | E082 | -45714 |