Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.70666837T>C |
GRCh37.p13 chr 7 | NC_000007.13:g.70131823T>C |
AUTS2 RefSeqGene | NG_034133.1:g.1072919T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
AUTS2 transcript variant 2 | NM_001127231.2:c. | N/A | Intron Variant |
AUTS2 transcript variant 1 | NM_015570.3:c. | N/A | Intron Variant |
AUTS2 transcript variant 3 | NM_001127232.2:c. | N/A | Genic Downstream Transcript Variant |
AUTS2 transcript variant X1 | XM_011516010.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X2 | XM_011516011.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X3 | XM_011516012.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X4 | XM_011516013.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X5 | XM_011516014.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X6 | XM_011516017.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X7 | XM_011516018.2:c. | N/A | Intron Variant |
AUTS2 transcript variant X9 | XM_017011951.1:c. | N/A | Intron Variant |
AUTS2 transcript variant X8 | XM_005250257.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.545 | C=0.455 |
1000Genomes | American | Sub | 694 | T=0.460 | C=0.540 |
1000Genomes | East Asian | Sub | 1008 | T=0.343 | C=0.657 |
1000Genomes | Europe | Sub | 1006 | T=0.780 | C=0.220 |
1000Genomes | Global | Study-wide | 5008 | T=0.526 | C=0.474 |
1000Genomes | South Asian | Sub | 978 | T=0.470 | C=0.530 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.753 | C=0.247 |
The Genome Aggregation Database | African | Sub | 8664 | T=0.563 | C=0.437 |
The Genome Aggregation Database | American | Sub | 838 | T=0.460 | C=0.540 |
The Genome Aggregation Database | East Asian | Sub | 1610 | T=0.324 | C=0.676 |
The Genome Aggregation Database | Europe | Sub | 18390 | T=0.788 | C=0.211 |
The Genome Aggregation Database | Global | Study-wide | 29804 | T=0.687 | C=0.313 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.650 | C=0.350 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.641 | C=0.358 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.760 | C=0.240 |
PMID | Title | Author | Journal |
---|---|---|---|
21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2107942 | 0.000617 | alcohol dependence | 21314694 |
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 ) |
---|---|---|---|---|
chr7 | 70085498 | 70085611 | E067 | -46212 |
chr7 | 70085728 | 70086016 | E067 | -45807 |
chr7 | 70092196 | 70092342 | E067 | -39481 |
chr7 | 70092515 | 70092765 | E067 | -39058 |
chr7 | 70174711 | 70175776 | E067 | 42888 |
chr7 | 70083334 | 70083414 | E068 | -48409 |
chr7 | 70083613 | 70083783 | E068 | -48040 |
chr7 | 70083791 | 70083907 | E068 | -47916 |
chr7 | 70084014 | 70084504 | E068 | -47319 |
chr7 | 70084617 | 70084682 | E068 | -47141 |
chr7 | 70084718 | 70085061 | E068 | -46762 |
chr7 | 70085163 | 70085252 | E068 | -46571 |
chr7 | 70085310 | 70085373 | E068 | -46450 |
chr7 | 70085498 | 70085611 | E068 | -46212 |
chr7 | 70085728 | 70086016 | E068 | -45807 |
chr7 | 70086106 | 70086300 | E068 | -45523 |
chr7 | 70092515 | 70092765 | E068 | -39058 |
chr7 | 70092805 | 70092869 | E068 | -38954 |
chr7 | 70092880 | 70092952 | E068 | -38871 |
chr7 | 70108790 | 70108888 | E068 | -22935 |
chr7 | 70108974 | 70109100 | E068 | -22723 |
chr7 | 70111545 | 70111852 | E068 | -19971 |
chr7 | 70111853 | 70111923 | E068 | -19900 |
chr7 | 70111944 | 70112074 | E068 | -19749 |
chr7 | 70112156 | 70112301 | E068 | -19522 |
chr7 | 70112354 | 70112696 | E068 | -19127 |
chr7 | 70112774 | 70113574 | E068 | -18249 |
chr7 | 70120047 | 70120282 | E068 | -11541 |
chr7 | 70163903 | 70164098 | E068 | 32080 |
chr7 | 70164206 | 70164542 | E068 | 32383 |
chr7 | 70164855 | 70166271 | E068 | 33032 |
chr7 | 70166509 | 70166831 | E068 | 34686 |
chr7 | 70167101 | 70167517 | E068 | 35278 |
chr7 | 70168648 | 70169120 | E068 | 36825 |
chr7 | 70169147 | 70169245 | E068 | 37324 |
chr7 | 70169398 | 70169557 | E068 | 37575 |
chr7 | 70169652 | 70170405 | E068 | 37829 |
chr7 | 70170626 | 70170724 | E068 | 38803 |
chr7 | 70170888 | 70170941 | E068 | 39065 |
chr7 | 70171009 | 70171641 | E068 | 39186 |
chr7 | 70171775 | 70171831 | E068 | 39952 |
chr7 | 70171870 | 70171949 | E068 | 40047 |
chr7 | 70172321 | 70172371 | E068 | 40498 |
chr7 | 70172654 | 70172731 | E068 | 40831 |
chr7 | 70172835 | 70173123 | E068 | 41012 |
chr7 | 70174711 | 70175776 | E068 | 42888 |
chr7 | 70175811 | 70176087 | E068 | 43988 |
chr7 | 70083334 | 70083414 | E069 | -48409 |
chr7 | 70083613 | 70083783 | E069 | -48040 |
chr7 | 70083791 | 70083907 | E069 | -47916 |
chr7 | 70084014 | 70084504 | E069 | -47319 |
chr7 | 70084617 | 70084682 | E069 | -47141 |
chr7 | 70084718 | 70085061 | E069 | -46762 |
chr7 | 70085163 | 70085252 | E069 | -46571 |
chr7 | 70085310 | 70085373 | E069 | -46450 |
chr7 | 70085498 | 70085611 | E069 | -46212 |
chr7 | 70092515 | 70092765 | E069 | -39058 |
chr7 | 70111545 | 70111852 | E069 | -19971 |
chr7 | 70111853 | 70111923 | E069 | -19900 |
chr7 | 70111944 | 70112074 | E069 | -19749 |
chr7 | 70164206 | 70164542 | E069 | 32383 |
chr7 | 70164855 | 70166271 | E069 | 33032 |
chr7 | 70177738 | 70177835 | E069 | 45915 |
chr7 | 70177837 | 70177983 | E069 | 46014 |
chr7 | 70083113 | 70083218 | E070 | -48605 |
chr7 | 70083334 | 70083414 | E070 | -48409 |
chr7 | 70083613 | 70083783 | E070 | -48040 |
chr7 | 70083791 | 70083907 | E070 | -47916 |
chr7 | 70084014 | 70084504 | E070 | -47319 |
chr7 | 70084617 | 70084682 | E070 | -47141 |
chr7 | 70084718 | 70085061 | E070 | -46762 |
chr7 | 70085163 | 70085252 | E070 | -46571 |
chr7 | 70085310 | 70085373 | E070 | -46450 |
chr7 | 70085498 | 70085611 | E070 | -46212 |
chr7 | 70085728 | 70086016 | E070 | -45807 |
chr7 | 70086106 | 70086300 | E070 | -45523 |
chr7 | 70089678 | 70089926 | E070 | -41897 |
chr7 | 70090104 | 70090154 | E070 | -41669 |
chr7 | 70092515 | 70092765 | E070 | -39058 |
chr7 | 70092805 | 70092869 | E070 | -38954 |
chr7 | 70092880 | 70092952 | E070 | -38871 |
chr7 | 70094019 | 70094069 | E070 | -37754 |
chr7 | 70094978 | 70095101 | E070 | -36722 |
chr7 | 70095209 | 70095259 | E070 | -36564 |
chr7 | 70096772 | 70097002 | E070 | -34821 |
chr7 | 70097066 | 70097363 | E070 | -34460 |
chr7 | 70102628 | 70102688 | E070 | -29135 |
chr7 | 70102807 | 70102852 | E070 | -28971 |
chr7 | 70102855 | 70102973 | E070 | -28850 |
chr7 | 70103014 | 70103109 | E070 | -28714 |
chr7 | 70103241 | 70104011 | E070 | -27812 |
chr7 | 70109648 | 70109698 | E070 | -22125 |
chr7 | 70109716 | 70109842 | E070 | -21981 |
chr7 | 70109951 | 70110001 | E070 | -21822 |
chr7 | 70110100 | 70111468 | E070 | -20355 |
chr7 | 70111545 | 70111852 | E070 | -19971 |
chr7 | 70111853 | 70111923 | E070 | -19900 |
chr7 | 70111944 | 70112074 | E070 | -19749 |
chr7 | 70163153 | 70163677 | E070 | 31330 |
chr7 | 70164206 | 70164542 | E070 | 32383 |
chr7 | 70164855 | 70166271 | E070 | 33032 |
chr7 | 70166509 | 70166831 | E070 | 34686 |
chr7 | 70167101 | 70167517 | E070 | 35278 |
chr7 | 70168648 | 70169120 | E070 | 36825 |
chr7 | 70169147 | 70169245 | E070 | 37324 |
chr7 | 70169398 | 70169557 | E070 | 37575 |
chr7 | 70169652 | 70170405 | E070 | 37829 |
chr7 | 70170626 | 70170724 | E070 | 38803 |
chr7 | 70170888 | 70170941 | E070 | 39065 |
chr7 | 70083613 | 70083783 | E071 | -48040 |
chr7 | 70083791 | 70083907 | E071 | -47916 |
chr7 | 70084014 | 70084504 | E071 | -47319 |
chr7 | 70084617 | 70084682 | E071 | -47141 |
chr7 | 70084718 | 70085061 | E071 | -46762 |
chr7 | 70085163 | 70085252 | E071 | -46571 |
chr7 | 70085310 | 70085373 | E071 | -46450 |
chr7 | 70085498 | 70085611 | E071 | -46212 |
chr7 | 70085728 | 70086016 | E071 | -45807 |
chr7 | 70092515 | 70092765 | E071 | -39058 |
chr7 | 70108790 | 70108888 | E071 | -22935 |
chr7 | 70108974 | 70109100 | E071 | -22723 |
chr7 | 70111545 | 70111852 | E071 | -19971 |
chr7 | 70174711 | 70175776 | E071 | 42888 |
chr7 | 70084718 | 70085061 | E072 | -46762 |
chr7 | 70085163 | 70085252 | E072 | -46571 |
chr7 | 70085310 | 70085373 | E072 | -46450 |
chr7 | 70085498 | 70085611 | E072 | -46212 |
chr7 | 70085728 | 70086016 | E072 | -45807 |
chr7 | 70086106 | 70086300 | E072 | -45523 |
chr7 | 70092515 | 70092765 | E072 | -39058 |
chr7 | 70084718 | 70085061 | E073 | -46762 |
chr7 | 70085163 | 70085252 | E073 | -46571 |
chr7 | 70085310 | 70085373 | E073 | -46450 |
chr7 | 70164206 | 70164542 | E073 | 32383 |
chr7 | 70084718 | 70085061 | E074 | -46762 |
chr7 | 70085163 | 70085252 | E074 | -46571 |
chr7 | 70085310 | 70085373 | E074 | -46450 |
chr7 | 70085498 | 70085611 | E074 | -46212 |
chr7 | 70092515 | 70092765 | E074 | -39058 |
chr7 | 70092805 | 70092869 | E074 | -38954 |
chr7 | 70092880 | 70092952 | E074 | -38871 |
chr7 | 70100247 | 70100297 | E074 | -31526 |
chr7 | 70167101 | 70167517 | E074 | 35278 |
chr7 | 70168648 | 70169120 | E074 | 36825 |
chr7 | 70169147 | 70169245 | E074 | 37324 |
chr7 | 70174711 | 70175776 | E074 | 42888 |
chr7 | 70176348 | 70176528 | E074 | 44525 |
chr7 | 70083113 | 70083218 | E081 | -48605 |
chr7 | 70083334 | 70083414 | E081 | -48409 |
chr7 | 70083613 | 70083783 | E081 | -48040 |
chr7 | 70083791 | 70083907 | E081 | -47916 |
chr7 | 70084014 | 70084504 | E081 | -47319 |
chr7 | 70084617 | 70084682 | E081 | -47141 |
chr7 | 70084718 | 70085061 | E081 | -46762 |
chr7 | 70085163 | 70085252 | E081 | -46571 |
chr7 | 70085310 | 70085373 | E081 | -46450 |
chr7 | 70085498 | 70085611 | E081 | -46212 |
chr7 | 70085728 | 70086016 | E081 | -45807 |
chr7 | 70092515 | 70092765 | E081 | -39058 |
chr7 | 70094978 | 70095101 | E081 | -36722 |
chr7 | 70095209 | 70095259 | E081 | -36564 |
chr7 | 70095273 | 70096563 | E081 | -35260 |
chr7 | 70096772 | 70097002 | E081 | -34821 |
chr7 | 70097066 | 70097363 | E081 | -34460 |
chr7 | 70097458 | 70097549 | E081 | -34274 |
chr7 | 70099059 | 70099132 | E081 | -32691 |
chr7 | 70109648 | 70109698 | E081 | -22125 |
chr7 | 70109716 | 70109842 | E081 | -21981 |
chr7 | 70109951 | 70110001 | E081 | -21822 |
chr7 | 70110100 | 70111468 | E081 | -20355 |
chr7 | 70111545 | 70111852 | E081 | -19971 |
chr7 | 70111853 | 70111923 | E081 | -19900 |
chr7 | 70111944 | 70112074 | E081 | -19749 |
chr7 | 70112156 | 70112301 | E081 | -19522 |
chr7 | 70112354 | 70112696 | E081 | -19127 |
chr7 | 70112774 | 70113574 | E081 | -18249 |
chr7 | 70132925 | 70133023 | E081 | 1102 |
chr7 | 70145488 | 70145583 | E081 | 13665 |
chr7 | 70145796 | 70146067 | E081 | 13973 |
chr7 | 70146097 | 70146430 | E081 | 14274 |
chr7 | 70146579 | 70147228 | E081 | 14756 |
chr7 | 70147291 | 70147355 | E081 | 15468 |
chr7 | 70147421 | 70147545 | E081 | 15598 |
chr7 | 70147592 | 70147758 | E081 | 15769 |
chr7 | 70147778 | 70147860 | E081 | 15955 |
chr7 | 70147869 | 70148033 | E081 | 16046 |
chr7 | 70157804 | 70157882 | E081 | 25981 |
chr7 | 70157952 | 70158104 | E081 | 26129 |
chr7 | 70158127 | 70158167 | E081 | 26304 |
chr7 | 70163903 | 70164098 | E081 | 32080 |
chr7 | 70164206 | 70164542 | E081 | 32383 |
chr7 | 70164855 | 70166271 | E081 | 33032 |
chr7 | 70166509 | 70166831 | E081 | 34686 |
chr7 | 70167101 | 70167517 | E081 | 35278 |
chr7 | 70168648 | 70169120 | E081 | 36825 |
chr7 | 70169147 | 70169245 | E081 | 37324 |
chr7 | 70169398 | 70169557 | E081 | 37575 |
chr7 | 70169652 | 70170405 | E081 | 37829 |
chr7 | 70170626 | 70170724 | E081 | 38803 |
chr7 | 70170888 | 70170941 | E081 | 39065 |
chr7 | 70171009 | 70171641 | E081 | 39186 |
chr7 | 70171775 | 70171831 | E081 | 39952 |
chr7 | 70171870 | 70171949 | E081 | 40047 |
chr7 | 70172321 | 70172371 | E081 | 40498 |
chr7 | 70172654 | 70172731 | E081 | 40831 |
chr7 | 70172835 | 70173123 | E081 | 41012 |
chr7 | 70174711 | 70175776 | E081 | 42888 |
chr7 | 70175811 | 70176087 | E081 | 43988 |
chr7 | 70176171 | 70176284 | E081 | 44348 |
chr7 | 70176348 | 70176528 | E081 | 44525 |
chr7 | 70176610 | 70176827 | E081 | 44787 |
chr7 | 70177738 | 70177835 | E081 | 45915 |
chr7 | 70177837 | 70177983 | E081 | 46014 |
chr7 | 70178013 | 70178239 | E081 | 46190 |
chr7 | 70083113 | 70083218 | E082 | -48605 |
chr7 | 70083334 | 70083414 | E082 | -48409 |
chr7 | 70083613 | 70083783 | E082 | -48040 |
chr7 | 70083791 | 70083907 | E082 | -47916 |
chr7 | 70084014 | 70084504 | E082 | -47319 |
chr7 | 70085498 | 70085611 | E082 | -46212 |
chr7 | 70085728 | 70086016 | E082 | -45807 |
chr7 | 70089678 | 70089926 | E082 | -41897 |
chr7 | 70094978 | 70095101 | E082 | -36722 |
chr7 | 70095209 | 70095259 | E082 | -36564 |
chr7 | 70095273 | 70096563 | E082 | -35260 |
chr7 | 70096772 | 70097002 | E082 | -34821 |
chr7 | 70097066 | 70097363 | E082 | -34460 |
chr7 | 70110100 | 70111468 | E082 | -20355 |
chr7 | 70111545 | 70111852 | E082 | -19971 |
chr7 | 70111853 | 70111923 | E082 | -19900 |
chr7 | 70111944 | 70112074 | E082 | -19749 |
chr7 | 70112156 | 70112301 | E082 | -19522 |
chr7 | 70112354 | 70112696 | E082 | -19127 |
chr7 | 70145488 | 70145583 | E082 | 13665 |
chr7 | 70145796 | 70146067 | E082 | 13973 |
chr7 | 70146097 | 70146430 | E082 | 14274 |
chr7 | 70146579 | 70147228 | E082 | 14756 |
chr7 | 70147291 | 70147355 | E082 | 15468 |
chr7 | 70147421 | 70147545 | E082 | 15598 |
chr7 | 70147592 | 70147758 | E082 | 15769 |
chr7 | 70147778 | 70147860 | E082 | 15955 |
chr7 | 70147869 | 70148033 | E082 | 16046 |
chr7 | 70148154 | 70148276 | E082 | 16331 |
chr7 | 70148374 | 70148428 | E082 | 16551 |
chr7 | 70157952 | 70158104 | E082 | 26129 |
chr7 | 70158127 | 70158167 | E082 | 26304 |
chr7 | 70169398 | 70169557 | E082 | 37575 |
chr7 | 70169652 | 70170405 | E082 | 37829 |
chr7 | 70170626 | 70170724 | E082 | 38803 |
chr7 | 70170888 | 70170941 | E082 | 39065 |
chr7 | 70171009 | 70171641 | E082 | 39186 |
chr7 | 70174711 | 70175776 | E082 | 42888 |
chr7 | 70175811 | 70176087 | E082 | 43988 |
chr7 | 70177738 | 70177835 | E082 | 45915 |
chr7 | 70177837 | 70177983 | E082 | 46014 |
chr7 | 70178013 | 70178239 | E082 | 46190 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr7 | 70158209 | 70162020 | E067 | 26386 |
chr7 | 70158209 | 70162020 | E068 | 26386 |
chr7 | 70162147 | 70162237 | E068 | 30324 |
chr7 | 70162433 | 70162510 | E068 | 30610 |
chr7 | 70158209 | 70162020 | E069 | 26386 |
chr7 | 70162147 | 70162237 | E070 | 30324 |
chr7 | 70162433 | 70162510 | E070 | 30610 |
chr7 | 70158209 | 70162020 | E071 | 26386 |
chr7 | 70158209 | 70162020 | E072 | 26386 |
chr7 | 70158209 | 70162020 | E073 | 26386 |
chr7 | 70158209 | 70162020 | E074 | 26386 |
chr7 | 70158209 | 70162020 | E081 | 26386 |
chr7 | 70162147 | 70162237 | E081 | 30324 |
chr7 | 70162433 | 70162510 | E081 | 30610 |
chr7 | 70158209 | 70162020 | E082 | 26386 |
chr7 | 70162147 | 70162237 | E082 | 30324 |
chr7 | 70162433 | 70162510 | E082 | 30610 |