Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.111730205G>A |
GRCh37.p13 chr 12 | NC_000012.11:g.112168009G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ACAD10 transcript variant 1 | NM_001136538.1:c. | N/A | Intron Variant |
ACAD10 transcript variant 2 | NM_025247.5:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=1.000 | A=0.000 |
1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
1000Genomes | East Asian | Sub | 1008 | G=0.824 | A=0.176 |
1000Genomes | Europe | Sub | 1006 | G=1.000 | A=0.000 |
1000Genomes | Global | Study-wide | 5008 | G=0.964 | A=0.036 |
1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.999 | A=0.001 |
The Genome Aggregation Database | African | Sub | 8728 | G=1.000 | A=0.000 |
The Genome Aggregation Database | American | Sub | 838 | G=1.000 | A=0.000 |
The Genome Aggregation Database | East Asian | Sub | 1616 | G=0.730 | A=0.270 |
The Genome Aggregation Database | Europe | Sub | 18500 | G=0.999 | A=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29984 | G=0.985 | A=0.014 |
The Genome Aggregation Database | Other | Sub | 302 | G=1.000 | A=0.000 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.999 | A=0.000 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=1.000 | A=0.000 |
PMID | Title | Author | Journal |
---|---|---|---|
23555315 | Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. | Haiman CA | PLoS Genet |
27181629 | Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. | Sakiyama M | Sci Rep |
22865593 | Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population. | Bye H | Carcinogenesis |
26833210 | Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population. | Kim YK | Cardiovasc Diabetol |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs11066015 | 1.73E-85 | alcohol (ever vs. never) | 23555315 |
rs11066015 | 4.28E-09 | alcohol consumption | 23555315 |
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 ) |
---|---|---|---|---|
chr12 | 112121005 | 112121049 | E067 | -46960 |
chr12 | 112121293 | 112121343 | E067 | -46666 |
chr12 | 112121582 | 112121632 | E067 | -46377 |
chr12 | 112121724 | 112121796 | E067 | -46213 |
chr12 | 112121888 | 112121937 | E067 | -46072 |
chr12 | 112122047 | 112122097 | E067 | -45912 |
chr12 | 112122118 | 112122168 | E067 | -45841 |
chr12 | 112153115 | 112153510 | E067 | -14499 |
chr12 | 112153601 | 112153651 | E067 | -14358 |
chr12 | 112191009 | 112191667 | E067 | 23000 |
chr12 | 112192887 | 112192956 | E067 | 24878 |
chr12 | 112211077 | 112211234 | E067 | 43068 |
chr12 | 112211239 | 112211372 | E067 | 43230 |
chr12 | 112211459 | 112214305 | E067 | 43450 |
chr12 | 112214755 | 112214834 | E067 | 46746 |
chr12 | 112214875 | 112215915 | E067 | 46866 |
chr12 | 112121888 | 112121937 | E068 | -46072 |
chr12 | 112122047 | 112122097 | E068 | -45912 |
chr12 | 112122118 | 112122168 | E068 | -45841 |
chr12 | 112125136 | 112125350 | E068 | -42659 |
chr12 | 112125515 | 112125592 | E068 | -42417 |
chr12 | 112152787 | 112153106 | E068 | -14903 |
chr12 | 112153115 | 112153510 | E068 | -14499 |
chr12 | 112153601 | 112153651 | E068 | -14358 |
chr12 | 112153981 | 112154032 | E068 | -13977 |
chr12 | 112178800 | 112179005 | E068 | 10791 |
chr12 | 112179012 | 112179062 | E068 | 11003 |
chr12 | 112179128 | 112179480 | E068 | 11119 |
chr12 | 112185180 | 112185382 | E068 | 17171 |
chr12 | 112185650 | 112185847 | E068 | 17641 |
chr12 | 112185892 | 112186627 | E068 | 17883 |
chr12 | 112186780 | 112187002 | E068 | 18771 |
chr12 | 112187111 | 112187283 | E068 | 19102 |
chr12 | 112187316 | 112187529 | E068 | 19307 |
chr12 | 112191808 | 112191862 | E068 | 23799 |
chr12 | 112191936 | 112192017 | E068 | 23927 |
chr12 | 112192094 | 112192356 | E068 | 24085 |
chr12 | 112192413 | 112192846 | E068 | 24404 |
chr12 | 112193493 | 112193555 | E068 | 25484 |
chr12 | 112193706 | 112193829 | E068 | 25697 |
chr12 | 112194124 | 112194251 | E068 | 26115 |
chr12 | 112194358 | 112194424 | E068 | 26349 |
chr12 | 112194468 | 112194518 | E068 | 26459 |
chr12 | 112194589 | 112194676 | E068 | 26580 |
chr12 | 112194787 | 112194870 | E068 | 26778 |
chr12 | 112194873 | 112194955 | E068 | 26864 |
chr12 | 112194958 | 112196457 | E068 | 26949 |
chr12 | 112196517 | 112196597 | E068 | 28508 |
chr12 | 112206883 | 112207004 | E068 | 38874 |
chr12 | 112207057 | 112207139 | E068 | 39048 |
chr12 | 112207231 | 112207372 | E068 | 39222 |
chr12 | 112211077 | 112211234 | E068 | 43068 |
chr12 | 112211239 | 112211372 | E068 | 43230 |
chr12 | 112211459 | 112214305 | E068 | 43450 |
chr12 | 112214755 | 112214834 | E068 | 46746 |
chr12 | 112121582 | 112121632 | E069 | -46377 |
chr12 | 112121724 | 112121796 | E069 | -46213 |
chr12 | 112121888 | 112121937 | E069 | -46072 |
chr12 | 112122047 | 112122097 | E069 | -45912 |
chr12 | 112122118 | 112122168 | E069 | -45841 |
chr12 | 112125136 | 112125350 | E069 | -42659 |
chr12 | 112186780 | 112187002 | E069 | 18771 |
chr12 | 112191009 | 112191667 | E069 | 23000 |
chr12 | 112191808 | 112191862 | E069 | 23799 |
chr12 | 112191936 | 112192017 | E069 | 23927 |
chr12 | 112192094 | 112192356 | E069 | 24085 |
chr12 | 112192413 | 112192846 | E069 | 24404 |
chr12 | 112194124 | 112194251 | E069 | 26115 |
chr12 | 112194358 | 112194424 | E069 | 26349 |
chr12 | 112194468 | 112194518 | E069 | 26459 |
chr12 | 112194589 | 112194676 | E069 | 26580 |
chr12 | 112194787 | 112194870 | E069 | 26778 |
chr12 | 112194873 | 112194955 | E069 | 26864 |
chr12 | 112194958 | 112196457 | E069 | 26949 |
chr12 | 112206883 | 112207004 | E069 | 38874 |
chr12 | 112211077 | 112211234 | E069 | 43068 |
chr12 | 112211239 | 112211372 | E069 | 43230 |
chr12 | 112211459 | 112214305 | E069 | 43450 |
chr12 | 112121582 | 112121632 | E070 | -46377 |
chr12 | 112121724 | 112121796 | E070 | -46213 |
chr12 | 112121888 | 112121937 | E070 | -46072 |
chr12 | 112122047 | 112122097 | E070 | -45912 |
chr12 | 112122118 | 112122168 | E070 | -45841 |
chr12 | 112125136 | 112125350 | E070 | -42659 |
chr12 | 112194958 | 112196457 | E070 | 26949 |
chr12 | 112206883 | 112207004 | E070 | 38874 |
chr12 | 112121888 | 112121937 | E071 | -46072 |
chr12 | 112122047 | 112122097 | E071 | -45912 |
chr12 | 112122118 | 112122168 | E071 | -45841 |
chr12 | 112153115 | 112153510 | E071 | -14499 |
chr12 | 112178800 | 112179005 | E071 | 10791 |
chr12 | 112179012 | 112179062 | E071 | 11003 |
chr12 | 112179128 | 112179480 | E071 | 11119 |
chr12 | 112191009 | 112191667 | E071 | 23000 |
chr12 | 112191808 | 112191862 | E071 | 23799 |
chr12 | 112191936 | 112192017 | E071 | 23927 |
chr12 | 112192094 | 112192356 | E071 | 24085 |
chr12 | 112192413 | 112192846 | E071 | 24404 |
chr12 | 112192887 | 112192956 | E071 | 24878 |
chr12 | 112194958 | 112196457 | E071 | 26949 |
chr12 | 112196517 | 112196597 | E071 | 28508 |
chr12 | 112203436 | 112203528 | E071 | 35427 |
chr12 | 112203536 | 112203790 | E071 | 35527 |
chr12 | 112206883 | 112207004 | E071 | 38874 |
chr12 | 112211077 | 112211234 | E071 | 43068 |
chr12 | 112211239 | 112211372 | E071 | 43230 |
chr12 | 112211459 | 112214305 | E071 | 43450 |
chr12 | 112214755 | 112214834 | E071 | 46746 |
chr12 | 112120813 | 112120863 | E072 | -47146 |
chr12 | 112121888 | 112121937 | E072 | -46072 |
chr12 | 112122047 | 112122097 | E072 | -45912 |
chr12 | 112122118 | 112122168 | E072 | -45841 |
chr12 | 112125136 | 112125350 | E072 | -42659 |
chr12 | 112152787 | 112153106 | E072 | -14903 |
chr12 | 112153115 | 112153510 | E072 | -14499 |
chr12 | 112192094 | 112192356 | E072 | 24085 |
chr12 | 112192413 | 112192846 | E072 | 24404 |
chr12 | 112194468 | 112194518 | E072 | 26459 |
chr12 | 112194589 | 112194676 | E072 | 26580 |
chr12 | 112194787 | 112194870 | E072 | 26778 |
chr12 | 112194873 | 112194955 | E072 | 26864 |
chr12 | 112194958 | 112196457 | E072 | 26949 |
chr12 | 112206883 | 112207004 | E072 | 38874 |
chr12 | 112207057 | 112207139 | E072 | 39048 |
chr12 | 112211077 | 112211234 | E072 | 43068 |
chr12 | 112211239 | 112211372 | E072 | 43230 |
chr12 | 112211459 | 112214305 | E072 | 43450 |
chr12 | 112214755 | 112214834 | E072 | 46746 |
chr12 | 112121888 | 112121937 | E073 | -46072 |
chr12 | 112122047 | 112122097 | E073 | -45912 |
chr12 | 112122118 | 112122168 | E073 | -45841 |
chr12 | 112125136 | 112125350 | E073 | -42659 |
chr12 | 112191009 | 112191667 | E073 | 23000 |
chr12 | 112191808 | 112191862 | E073 | 23799 |
chr12 | 112191936 | 112192017 | E073 | 23927 |
chr12 | 112192094 | 112192356 | E073 | 24085 |
chr12 | 112192413 | 112192846 | E073 | 24404 |
chr12 | 112192887 | 112192956 | E073 | 24878 |
chr12 | 112194589 | 112194676 | E073 | 26580 |
chr12 | 112194787 | 112194870 | E073 | 26778 |
chr12 | 112194873 | 112194955 | E073 | 26864 |
chr12 | 112194958 | 112196457 | E073 | 26949 |
chr12 | 112206883 | 112207004 | E073 | 38874 |
chr12 | 112207057 | 112207139 | E073 | 39048 |
chr12 | 112207231 | 112207372 | E073 | 39222 |
chr12 | 112207485 | 112207617 | E073 | 39476 |
chr12 | 112207987 | 112208189 | E073 | 39978 |
chr12 | 112211077 | 112211234 | E073 | 43068 |
chr12 | 112211239 | 112211372 | E073 | 43230 |
chr12 | 112211459 | 112214305 | E073 | 43450 |
chr12 | 112214755 | 112214834 | E073 | 46746 |
chr12 | 112214875 | 112215915 | E073 | 46866 |
chr12 | 112121582 | 112121632 | E074 | -46377 |
chr12 | 112121724 | 112121796 | E074 | -46213 |
chr12 | 112121888 | 112121937 | E074 | -46072 |
chr12 | 112125136 | 112125350 | E074 | -42659 |
chr12 | 112191009 | 112191667 | E074 | 23000 |
chr12 | 112191808 | 112191862 | E074 | 23799 |
chr12 | 112191936 | 112192017 | E074 | 23927 |
chr12 | 112192094 | 112192356 | E074 | 24085 |
chr12 | 112192413 | 112192846 | E074 | 24404 |
chr12 | 112194124 | 112194251 | E074 | 26115 |
chr12 | 112194358 | 112194424 | E074 | 26349 |
chr12 | 112194468 | 112194518 | E074 | 26459 |
chr12 | 112194589 | 112194676 | E074 | 26580 |
chr12 | 112194787 | 112194870 | E074 | 26778 |
chr12 | 112206883 | 112207004 | E074 | 38874 |
chr12 | 112207231 | 112207372 | E074 | 39222 |
chr12 | 112207485 | 112207617 | E074 | 39476 |
chr12 | 112207987 | 112208189 | E074 | 39978 |
chr12 | 112211077 | 112211234 | E074 | 43068 |
chr12 | 112211239 | 112211372 | E074 | 43230 |
chr12 | 112211459 | 112214305 | E074 | 43450 |
chr12 | 112214755 | 112214834 | E074 | 46746 |
chr12 | 112214875 | 112215915 | E074 | 46866 |
chr12 | 112122047 | 112122097 | E081 | -45912 |
chr12 | 112122118 | 112122168 | E081 | -45841 |
chr12 | 112153115 | 112153510 | E081 | -14499 |
chr12 | 112184727 | 112184805 | E081 | 16718 |
chr12 | 112184827 | 112184877 | E081 | 16818 |
chr12 | 112185180 | 112185382 | E081 | 17171 |
chr12 | 112185650 | 112185847 | E081 | 17641 |
chr12 | 112185892 | 112186627 | E081 | 17883 |
chr12 | 112186780 | 112187002 | E081 | 18771 |
chr12 | 112187111 | 112187283 | E081 | 19102 |
chr12 | 112187316 | 112187529 | E081 | 19307 |
chr12 | 112191009 | 112191667 | E081 | 23000 |
chr12 | 112191808 | 112191862 | E081 | 23799 |
chr12 | 112191936 | 112192017 | E081 | 23927 |
chr12 | 112192094 | 112192356 | E081 | 24085 |
chr12 | 112192413 | 112192846 | E081 | 24404 |
chr12 | 112192887 | 112192956 | E081 | 24878 |
chr12 | 112193192 | 112193259 | E081 | 25183 |
chr12 | 112193317 | 112193367 | E081 | 25308 |
chr12 | 112193493 | 112193555 | E081 | 25484 |
chr12 | 112193706 | 112193829 | E081 | 25697 |
chr12 | 112194124 | 112194251 | E081 | 26115 |
chr12 | 112194358 | 112194424 | E081 | 26349 |
chr12 | 112194468 | 112194518 | E081 | 26459 |
chr12 | 112194589 | 112194676 | E081 | 26580 |
chr12 | 112194787 | 112194870 | E081 | 26778 |
chr12 | 112194873 | 112194955 | E081 | 26864 |
chr12 | 112194958 | 112196457 | E081 | 26949 |
chr12 | 112196517 | 112196597 | E081 | 28508 |
chr12 | 112196660 | 112196779 | E081 | 28651 |
chr12 | 112120813 | 112120863 | E082 | -47146 |
chr12 | 112121005 | 112121049 | E082 | -46960 |
chr12 | 112121293 | 112121343 | E082 | -46666 |
chr12 | 112121582 | 112121632 | E082 | -46377 |
chr12 | 112121724 | 112121796 | E082 | -46213 |
chr12 | 112121888 | 112121937 | E082 | -46072 |
chr12 | 112122047 | 112122097 | E082 | -45912 |
chr12 | 112122118 | 112122168 | E082 | -45841 |
chr12 | 112152787 | 112153106 | E082 | -14903 |
chr12 | 112153115 | 112153510 | E082 | -14499 |
chr12 | 112185180 | 112185382 | E082 | 17171 |
chr12 | 112185650 | 112185847 | E082 | 17641 |
chr12 | 112185892 | 112186627 | E082 | 17883 |
chr12 | 112186780 | 112187002 | E082 | 18771 |
chr12 | 112187111 | 112187283 | E082 | 19102 |
chr12 | 112187316 | 112187529 | E082 | 19307 |
chr12 | 112192413 | 112192846 | E082 | 24404 |
chr12 | 112192887 | 112192956 | E082 | 24878 |
chr12 | 112194958 | 112196457 | E082 | 26949 |
chr12 | 112196517 | 112196597 | E082 | 28508 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr12 | 112122735 | 112124415 | E067 | -43594 |
chr12 | 112204096 | 112206016 | E067 | 36087 |
chr12 | 112122735 | 112124415 | E068 | -43594 |
chr12 | 112204096 | 112206016 | E068 | 36087 |
chr12 | 112122735 | 112124415 | E069 | -43594 |
chr12 | 112204096 | 112206016 | E069 | 36087 |
chr12 | 112122735 | 112124415 | E070 | -43594 |
chr12 | 112204096 | 112206016 | E070 | 36087 |
chr12 | 112122735 | 112124415 | E071 | -43594 |
chr12 | 112204096 | 112206016 | E071 | 36087 |
chr12 | 112122735 | 112124415 | E072 | -43594 |
chr12 | 112204096 | 112206016 | E072 | 36087 |
chr12 | 112122735 | 112124415 | E073 | -43594 |
chr12 | 112204096 | 112206016 | E073 | 36087 |
chr12 | 112122735 | 112124415 | E074 | -43594 |
chr12 | 112204096 | 112206016 | E074 | 36087 |
chr12 | 112122735 | 112124415 | E081 | -43594 |
chr12 | 112204096 | 112206016 | E081 | 36087 |
chr12 | 112122735 | 112124415 | E082 | -43594 |
chr12 | 112204096 | 112206016 | E082 | 36087 |