Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 13 | NC_000013.11:g.111305738T>C |
GRCh37.p13 chr 13 | NC_000013.10:g.111958085T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ARHGEF7 transcript variant 5 | NM_001113513.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant 6 | NM_001320851.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant 7 | NM_001320852.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant 8 | NM_001320853.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant 1 | NM_003899.3:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant 3 | NM_001113511.2:c. | N/A | N/A |
ARHGEF7 transcript variant 4 | NM_001113512.2:c. | N/A | N/A |
ARHGEF7 transcript variant 9 | NM_001320854.1:c. | N/A | N/A |
ARHGEF7 transcript variant 2 | NM_145735.3:c. | N/A | N/A |
ARHGEF7 transcript variant X1 | XM_006719956.3:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X3 | XM_017020815.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X4 | XM_017020816.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X6 | XM_017020818.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X7 | XM_017020819.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X6 | XM_017020820.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X9 | XM_017020821.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X9 | XM_017020822.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X11 | XM_017020823.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X12 | XM_017020824.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X13 | XM_017020825.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X11 | XM_017020828.1:c. | N/A | Downstream Transcript Variant |
ARHGEF7 transcript variant X13 | XM_011521133.2:c. | N/A | N/A |
ARHGEF7 transcript variant X2 | XM_017020814.1:c. | N/A | N/A |
ARHGEF7 transcript variant X5 | XM_017020817.1:c. | N/A | N/A |
ARHGEF7 transcript variant X14 | XM_017020826.1:c. | N/A | N/A |
ARHGEF7 transcript variant X15 | XM_017020827.1:c. | N/A | N/A |
ARHGEF7 transcript variant X19 | XM_017020829.1:c. | N/A | N/A |
ARHGEF7 transcript variant X14 | XR_001749712.1:n. | N/A | N/A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TEX29 transcript variant 1 | NM_001303133.1:c. | N/A | N/A |
TEX29 transcript variant 2 | NM_152324.2:c. | N/A | N/A |
TEX29 transcript variant X2 | XM_017020388.1:c. | N/A | Upstream Transcript Variant |
TEX29 transcript variant X1 | XM_017020387.1:c. | N/A | N/A |
TEX29 transcript variant X3 | XR_001749478.1:n. | N/A | N/A |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.961 | C=0.039 |
1000Genomes | American | Sub | 694 | T=0.910 | C=0.090 |
1000Genomes | East Asian | Sub | 1008 | T=0.316 | C=0.684 |
1000Genomes | Europe | Sub | 1006 | T=0.836 | C=0.164 |
1000Genomes | Global | Study-wide | 5008 | T=0.756 | C=0.244 |
1000Genomes | South Asian | Sub | 978 | T=0.740 | C=0.260 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.841 | C=0.159 |
The Genome Aggregation Database | African | Sub | 8732 | T=0.945 | C=0.055 |
The Genome Aggregation Database | American | Sub | 836 | T=0.830 | C=0.170 |
The Genome Aggregation Database | East Asian | Sub | 1620 | T=0.268 | C=0.732 |
The Genome Aggregation Database | Europe | Sub | 18496 | T=0.840 | C=0.159 |
The Genome Aggregation Database | Global | Study-wide | 29986 | T=0.840 | C=0.160 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.860 | C=0.140 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.883 | C=0.116 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.847 | C=0.153 |
PMID | Title | Author | Journal |
---|---|---|---|
19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs3742179 | 0.0002 | nicotine smoking | 19268276 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr13:111958085 | ARHGEF7 | ENSG00000102606.13 | T>C | 1.3191e-16 | 190819 | Cerebellum |
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 ) |
---|---|---|---|---|
chr13 | 111918686 | 111918748 | E067 | -39337 |
chr13 | 111918938 | 111918995 | E067 | -39090 |
chr13 | 111919133 | 111919183 | E067 | -38902 |
chr13 | 111921309 | 111921433 | E067 | -36652 |
chr13 | 111922005 | 111922155 | E067 | -35930 |
chr13 | 111922160 | 111922265 | E067 | -35820 |
chr13 | 111922418 | 111922844 | E067 | -35241 |
chr13 | 111922995 | 111923055 | E067 | -35030 |
chr13 | 111923173 | 111923436 | E067 | -34649 |
chr13 | 111923640 | 111923739 | E067 | -34346 |
chr13 | 111923780 | 111923870 | E067 | -34215 |
chr13 | 111924720 | 111924816 | E067 | -33269 |
chr13 | 111925207 | 111925267 | E067 | -32818 |
chr13 | 111925359 | 111925465 | E067 | -32620 |
chr13 | 111931724 | 111931783 | E067 | -26302 |
chr13 | 111932959 | 111935073 | E067 | -23012 |
chr13 | 111936041 | 111936112 | E067 | -21973 |
chr13 | 111936460 | 111936664 | E067 | -21421 |
chr13 | 111939024 | 111939095 | E067 | -18990 |
chr13 | 111908834 | 111908897 | E068 | -49188 |
chr13 | 111908995 | 111909038 | E068 | -49047 |
chr13 | 111914720 | 111914829 | E068 | -43256 |
chr13 | 111914870 | 111914997 | E068 | -43088 |
chr13 | 111915114 | 111915342 | E068 | -42743 |
chr13 | 111915436 | 111915541 | E068 | -42544 |
chr13 | 111915852 | 111915902 | E068 | -42183 |
chr13 | 111915967 | 111916107 | E068 | -41978 |
chr13 | 111916468 | 111916650 | E068 | -41435 |
chr13 | 111916786 | 111916848 | E068 | -41237 |
chr13 | 111919133 | 111919183 | E068 | -38902 |
chr13 | 111919259 | 111919319 | E068 | -38766 |
chr13 | 111919564 | 111919627 | E068 | -38458 |
chr13 | 111922160 | 111922265 | E068 | -35820 |
chr13 | 111922418 | 111922844 | E068 | -35241 |
chr13 | 111922995 | 111923055 | E068 | -35030 |
chr13 | 111923173 | 111923436 | E068 | -34649 |
chr13 | 111924720 | 111924816 | E068 | -33269 |
chr13 | 111925207 | 111925267 | E068 | -32818 |
chr13 | 111925359 | 111925465 | E068 | -32620 |
chr13 | 111925834 | 111925878 | E068 | -32207 |
chr13 | 111932959 | 111935073 | E068 | -23012 |
chr13 | 111950867 | 111950917 | E068 | -7168 |
chr13 | 111915114 | 111915342 | E069 | -42743 |
chr13 | 111915436 | 111915541 | E069 | -42544 |
chr13 | 111915852 | 111915902 | E069 | -42183 |
chr13 | 111915967 | 111916107 | E069 | -41978 |
chr13 | 111917835 | 111917957 | E069 | -40128 |
chr13 | 111919259 | 111919319 | E069 | -38766 |
chr13 | 111919564 | 111919627 | E069 | -38458 |
chr13 | 111919668 | 111919797 | E069 | -38288 |
chr13 | 111922005 | 111922155 | E069 | -35930 |
chr13 | 111922160 | 111922265 | E069 | -35820 |
chr13 | 111922418 | 111922844 | E069 | -35241 |
chr13 | 111922995 | 111923055 | E069 | -35030 |
chr13 | 111923173 | 111923436 | E069 | -34649 |
chr13 | 111923640 | 111923739 | E069 | -34346 |
chr13 | 111923780 | 111923870 | E069 | -34215 |
chr13 | 111923998 | 111924073 | E069 | -34012 |
chr13 | 111924720 | 111924816 | E069 | -33269 |
chr13 | 111925207 | 111925267 | E069 | -32818 |
chr13 | 111925359 | 111925465 | E069 | -32620 |
chr13 | 111925834 | 111925878 | E069 | -32207 |
chr13 | 111926088 | 111926219 | E069 | -31866 |
chr13 | 111931003 | 111931161 | E069 | -26924 |
chr13 | 111931168 | 111931673 | E069 | -26412 |
chr13 | 111931724 | 111931783 | E069 | -26302 |
chr13 | 111932739 | 111932953 | E069 | -25132 |
chr13 | 111932959 | 111935073 | E069 | -23012 |
chr13 | 111936460 | 111936664 | E069 | -21421 |
chr13 | 111979363 | 111979413 | E070 | 21278 |
chr13 | 111980819 | 111980882 | E070 | 22734 |
chr13 | 111981020 | 111981090 | E070 | 22935 |
chr13 | 111987397 | 111987447 | E070 | 29312 |
chr13 | 111987473 | 111987557 | E070 | 29388 |
chr13 | 111987628 | 111988023 | E070 | 29543 |
chr13 | 111988119 | 111988169 | E070 | 30034 |
chr13 | 111988214 | 111988264 | E070 | 30129 |
chr13 | 111914720 | 111914829 | E071 | -43256 |
chr13 | 111914870 | 111914997 | E071 | -43088 |
chr13 | 111915114 | 111915342 | E071 | -42743 |
chr13 | 111915436 | 111915541 | E071 | -42544 |
chr13 | 111915852 | 111915902 | E071 | -42183 |
chr13 | 111915967 | 111916107 | E071 | -41978 |
chr13 | 111916468 | 111916650 | E071 | -41435 |
chr13 | 111916786 | 111916848 | E071 | -41237 |
chr13 | 111917961 | 111918426 | E071 | -39659 |
chr13 | 111918459 | 111918642 | E071 | -39443 |
chr13 | 111918686 | 111918748 | E071 | -39337 |
chr13 | 111918938 | 111918995 | E071 | -39090 |
chr13 | 111919133 | 111919183 | E071 | -38902 |
chr13 | 111919259 | 111919319 | E071 | -38766 |
chr13 | 111919564 | 111919627 | E071 | -38458 |
chr13 | 111919668 | 111919797 | E071 | -38288 |
chr13 | 111922005 | 111922155 | E071 | -35930 |
chr13 | 111922160 | 111922265 | E071 | -35820 |
chr13 | 111922418 | 111922844 | E071 | -35241 |
chr13 | 111922995 | 111923055 | E071 | -35030 |
chr13 | 111923173 | 111923436 | E071 | -34649 |
chr13 | 111923640 | 111923739 | E071 | -34346 |
chr13 | 111923780 | 111923870 | E071 | -34215 |
chr13 | 111923998 | 111924073 | E071 | -34012 |
chr13 | 111924720 | 111924816 | E071 | -33269 |
chr13 | 111925207 | 111925267 | E071 | -32818 |
chr13 | 111925359 | 111925465 | E071 | -32620 |
chr13 | 111925834 | 111925878 | E071 | -32207 |
chr13 | 111926088 | 111926219 | E071 | -31866 |
chr13 | 111926240 | 111926365 | E071 | -31720 |
chr13 | 111926751 | 111926824 | E071 | -31261 |
chr13 | 111935403 | 111935606 | E071 | -22479 |
chr13 | 111936041 | 111936112 | E071 | -21973 |
chr13 | 111936460 | 111936664 | E071 | -21421 |
chr13 | 111936809 | 111936873 | E071 | -21212 |
chr13 | 111936910 | 111936960 | E071 | -21125 |
chr13 | 111937021 | 111937114 | E071 | -20971 |
chr13 | 111908834 | 111908897 | E072 | -49188 |
chr13 | 111908995 | 111909038 | E072 | -49047 |
chr13 | 111914720 | 111914829 | E072 | -43256 |
chr13 | 111914870 | 111914997 | E072 | -43088 |
chr13 | 111915114 | 111915342 | E072 | -42743 |
chr13 | 111915436 | 111915541 | E072 | -42544 |
chr13 | 111915852 | 111915902 | E072 | -42183 |
chr13 | 111915967 | 111916107 | E072 | -41978 |
chr13 | 111916468 | 111916650 | E072 | -41435 |
chr13 | 111916786 | 111916848 | E072 | -41237 |
chr13 | 111917835 | 111917957 | E072 | -40128 |
chr13 | 111917961 | 111918426 | E072 | -39659 |
chr13 | 111918459 | 111918642 | E072 | -39443 |
chr13 | 111918686 | 111918748 | E072 | -39337 |
chr13 | 111918938 | 111918995 | E072 | -39090 |
chr13 | 111919133 | 111919183 | E072 | -38902 |
chr13 | 111919259 | 111919319 | E072 | -38766 |
chr13 | 111919564 | 111919627 | E072 | -38458 |
chr13 | 111919668 | 111919797 | E072 | -38288 |
chr13 | 111922005 | 111922155 | E072 | -35930 |
chr13 | 111922160 | 111922265 | E072 | -35820 |
chr13 | 111922418 | 111922844 | E072 | -35241 |
chr13 | 111922995 | 111923055 | E072 | -35030 |
chr13 | 111923173 | 111923436 | E072 | -34649 |
chr13 | 111923640 | 111923739 | E072 | -34346 |
chr13 | 111923780 | 111923870 | E072 | -34215 |
chr13 | 111923998 | 111924073 | E072 | -34012 |
chr13 | 111924720 | 111924816 | E072 | -33269 |
chr13 | 111925207 | 111925267 | E072 | -32818 |
chr13 | 111925359 | 111925465 | E072 | -32620 |
chr13 | 111925834 | 111925878 | E072 | -32207 |
chr13 | 111926088 | 111926219 | E072 | -31866 |
chr13 | 111926240 | 111926365 | E072 | -31720 |
chr13 | 111931724 | 111931783 | E072 | -26302 |
chr13 | 111931815 | 111932468 | E072 | -25617 |
chr13 | 111932545 | 111932620 | E072 | -25465 |
chr13 | 111932739 | 111932953 | E072 | -25132 |
chr13 | 111932959 | 111935073 | E072 | -23012 |
chr13 | 111936460 | 111936664 | E072 | -21421 |
chr13 | 111936809 | 111936873 | E072 | -21212 |
chr13 | 111936910 | 111936960 | E072 | -21125 |
chr13 | 111937021 | 111937114 | E072 | -20971 |
chr13 | 111945563 | 111945750 | E072 | -12335 |
chr13 | 111914720 | 111914829 | E073 | -43256 |
chr13 | 111914870 | 111914997 | E073 | -43088 |
chr13 | 111915114 | 111915342 | E073 | -42743 |
chr13 | 111915436 | 111915541 | E073 | -42544 |
chr13 | 111915852 | 111915902 | E073 | -42183 |
chr13 | 111915967 | 111916107 | E073 | -41978 |
chr13 | 111917961 | 111918426 | E073 | -39659 |
chr13 | 111918459 | 111918642 | E073 | -39443 |
chr13 | 111918686 | 111918748 | E073 | -39337 |
chr13 | 111918938 | 111918995 | E073 | -39090 |
chr13 | 111919133 | 111919183 | E073 | -38902 |
chr13 | 111919259 | 111919319 | E073 | -38766 |
chr13 | 111919564 | 111919627 | E073 | -38458 |
chr13 | 111922005 | 111922155 | E073 | -35930 |
chr13 | 111922160 | 111922265 | E073 | -35820 |
chr13 | 111922418 | 111922844 | E073 | -35241 |
chr13 | 111924720 | 111924816 | E073 | -33269 |
chr13 | 111925207 | 111925267 | E073 | -32818 |
chr13 | 111925359 | 111925465 | E073 | -32620 |
chr13 | 111936041 | 111936112 | E073 | -21973 |
chr13 | 111938624 | 111938790 | E073 | -19295 |
chr13 | 111939024 | 111939095 | E073 | -18990 |
chr13 | 111939206 | 111939256 | E073 | -18829 |
chr13 | 111914720 | 111914829 | E074 | -43256 |
chr13 | 111914870 | 111914997 | E074 | -43088 |
chr13 | 111915114 | 111915342 | E074 | -42743 |
chr13 | 111915436 | 111915541 | E074 | -42544 |
chr13 | 111915852 | 111915902 | E074 | -42183 |
chr13 | 111915967 | 111916107 | E074 | -41978 |
chr13 | 111916468 | 111916650 | E074 | -41435 |
chr13 | 111916786 | 111916848 | E074 | -41237 |
chr13 | 111917835 | 111917957 | E074 | -40128 |
chr13 | 111917961 | 111918426 | E074 | -39659 |
chr13 | 111918459 | 111918642 | E074 | -39443 |
chr13 | 111918686 | 111918748 | E074 | -39337 |
chr13 | 111918938 | 111918995 | E074 | -39090 |
chr13 | 111919133 | 111919183 | E074 | -38902 |
chr13 | 111919259 | 111919319 | E074 | -38766 |
chr13 | 111919564 | 111919627 | E074 | -38458 |
chr13 | 111919668 | 111919797 | E074 | -38288 |
chr13 | 111920213 | 111920564 | E074 | -37521 |
chr13 | 111920677 | 111920767 | E074 | -37318 |
chr13 | 111920851 | 111920916 | E074 | -37169 |
chr13 | 111920982 | 111921036 | E074 | -37049 |
chr13 | 111921309 | 111921433 | E074 | -36652 |
chr13 | 111922005 | 111922155 | E074 | -35930 |
chr13 | 111922160 | 111922265 | E074 | -35820 |
chr13 | 111922418 | 111922844 | E074 | -35241 |
chr13 | 111922995 | 111923055 | E074 | -35030 |
chr13 | 111923173 | 111923436 | E074 | -34649 |
chr13 | 111923640 | 111923739 | E074 | -34346 |
chr13 | 111923780 | 111923870 | E074 | -34215 |
chr13 | 111923998 | 111924073 | E074 | -34012 |
chr13 | 111924720 | 111924816 | E074 | -33269 |
chr13 | 111925207 | 111925267 | E074 | -32818 |
chr13 | 111925359 | 111925465 | E074 | -32620 |
chr13 | 111925834 | 111925878 | E074 | -32207 |
chr13 | 111926088 | 111926219 | E074 | -31866 |
chr13 | 111926240 | 111926365 | E074 | -31720 |
chr13 | 111987628 | 111988023 | E074 | 29543 |
chr13 | 111980819 | 111980882 | E081 | 22734 |
chr13 | 111987151 | 111987208 | E081 | 29066 |
chr13 | 111987397 | 111987447 | E081 | 29312 |
chr13 | 111987473 | 111987557 | E081 | 29388 |
chr13 | 111987628 | 111988023 | E081 | 29543 |
chr13 | 111988119 | 111988169 | E081 | 30034 |
chr13 | 111988214 | 111988264 | E081 | 30129 |
chr13 | 111996676 | 111997619 | E081 | 38591 |
chr13 | 111914720 | 111914829 | E082 | -43256 |
chr13 | 111914870 | 111914997 | E082 | -43088 |
chr13 | 111987628 | 111988023 | E082 | 29543 |
chr13 | 111988119 | 111988169 | E082 | 30034 |
chr13 | 111988214 | 111988264 | E082 | 30129 |