Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 12 | NC_000012.12:g.111555908C>T |
GRCh37.p13 chr 12 | NC_000012.11:g.111993712C>T |
ATXN2 RefSeqGene | NG_011572.2:g.48769G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ATXN2 transcript variant 3 | NM_001310123.1:c. | N/A | Intron Variant |
ATXN2 transcript variant 2 | NM_001310121.1:c. | N/A | 5 Prime UTR Variant |
ATXN2 transcript variant 1 | NM_002973.3:c.743G>A | S [AGT]> N [AAT] | Coding Sequence Variant |
ataxin-2 isoform 1 | NP_002964.3:p.Ser...NP_002964.3:p.Ser248Asn | S [Ser]> N [Asn] | Missense Variant |
ATXN2 transcript variant 4 | NR_132311.1:n.905G>A | G>A | Non Coding Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.849 | T=0.151 |
1000Genomes | American | Sub | 694 | C=0.880 | T=0.120 |
1000Genomes | East Asian | Sub | 1008 | C=0.477 | T=0.523 |
1000Genomes | Europe | Sub | 1006 | C=0.998 | T=0.002 |
1000Genomes | Global | Study-wide | 5008 | C=0.820 | T=0.180 |
1000Genomes | South Asian | Sub | 978 | C=0.910 | T=0.090 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.996 | T=0.004 |
The Exome Aggregation Consortium | American | Sub | 20984 | C=0.830 | T=0.169 |
The Exome Aggregation Consortium | Asian | Sub | 24036 | C=0.736 | T=0.263 |
The Exome Aggregation Consortium | Europe | Sub | 66912 | C=0.995 | T=0.004 |
The Exome Aggregation Consortium | Global | Study-wide | 112792 | C=0.909 | T=0.090 |
The Exome Aggregation Consortium | Other | Sub | 860 | C=0.950 | T=0.050 |
The Genome Aggregation Database | African | Sub | 8708 | C=0.882 | T=0.118 |
The Genome Aggregation Database | American | Sub | 838 | C=0.850 | T=0.150 |
The Genome Aggregation Database | East Asian | Sub | 1606 | C=0.425 | T=0.575 |
The Genome Aggregation Database | Europe | Sub | 18502 | C=0.996 | T=0.003 |
The Genome Aggregation Database | Global | Study-wide | 29956 | C=0.928 | T=0.071 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.990 | T=0.010 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.928 | T=0.071 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.997 | T=0.003 |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs7969300 | 2.73E-19 | alcohol (ever vs. never) | 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 | 111964831 | 111965022 | E067 | -28690 |
chr12 | 111965054 | 111965120 | E067 | -28592 |
chr12 | 111965328 | 111965388 | E067 | -28324 |
chr12 | 111965441 | 111965571 | E067 | -28141 |
chr12 | 111986577 | 111986627 | E067 | -7085 |
chr12 | 111986804 | 111986854 | E067 | -6858 |
chr12 | 111994089 | 111994153 | E067 | 377 |
chr12 | 111994238 | 111994324 | E067 | 526 |
chr12 | 111995075 | 111995277 | E067 | 1363 |
chr12 | 111995315 | 111995599 | E067 | 1603 |
chr12 | 111998386 | 111998436 | E067 | 4674 |
chr12 | 111998439 | 111998544 | E067 | 4727 |
chr12 | 111998569 | 111998626 | E067 | 4857 |
chr12 | 112006408 | 112006448 | E067 | 12696 |
chr12 | 112006565 | 112006730 | E067 | 12853 |
chr12 | 112006871 | 112007047 | E067 | 13159 |
chr12 | 112007090 | 112007157 | E067 | 13378 |
chr12 | 112007223 | 112007484 | E067 | 13511 |
chr12 | 112007565 | 112007664 | E067 | 13853 |
chr12 | 112007679 | 112007719 | E067 | 13967 |
chr12 | 112007759 | 112007843 | E067 | 14047 |
chr12 | 112007864 | 112008170 | E067 | 14152 |
chr12 | 112008243 | 112008407 | E067 | 14531 |
chr12 | 112008422 | 112008670 | E067 | 14710 |
chr12 | 112008735 | 112008859 | E067 | 15023 |
chr12 | 112011088 | 112011434 | E067 | 17376 |
chr12 | 112031803 | 112032075 | E067 | 38091 |
chr12 | 112032345 | 112032406 | E067 | 38633 |
chr12 | 112032644 | 112032750 | E067 | 38932 |
chr12 | 112032894 | 112032954 | E067 | 39182 |
chr12 | 112033098 | 112033182 | E067 | 39386 |
chr12 | 112033290 | 112033361 | E067 | 39578 |
chr12 | 112033588 | 112033662 | E067 | 39876 |
chr12 | 112033968 | 112034040 | E067 | 40256 |
chr12 | 112034042 | 112034135 | E067 | 40330 |
chr12 | 111964831 | 111965022 | E068 | -28690 |
chr12 | 111965054 | 111965120 | E068 | -28592 |
chr12 | 111965328 | 111965388 | E068 | -28324 |
chr12 | 111965441 | 111965571 | E068 | -28141 |
chr12 | 111995075 | 111995277 | E068 | 1363 |
chr12 | 111995315 | 111995599 | E068 | 1603 |
chr12 | 111998386 | 111998436 | E068 | 4674 |
chr12 | 111998439 | 111998544 | E068 | 4727 |
chr12 | 111998569 | 111998626 | E068 | 4857 |
chr12 | 112006408 | 112006448 | E068 | 12696 |
chr12 | 112006565 | 112006730 | E068 | 12853 |
chr12 | 112006871 | 112007047 | E068 | 13159 |
chr12 | 112007864 | 112008170 | E068 | 14152 |
chr12 | 112008243 | 112008407 | E068 | 14531 |
chr12 | 112008422 | 112008670 | E068 | 14710 |
chr12 | 112018247 | 112018294 | E068 | 24535 |
chr12 | 112019506 | 112019703 | E068 | 25794 |
chr12 | 112019896 | 112019982 | E068 | 26184 |
chr12 | 112025325 | 112025414 | E068 | 31613 |
chr12 | 112025416 | 112025846 | E068 | 31704 |
chr12 | 112031803 | 112032075 | E068 | 38091 |
chr12 | 112032345 | 112032406 | E068 | 38633 |
chr12 | 112032644 | 112032750 | E068 | 38932 |
chr12 | 112032894 | 112032954 | E068 | 39182 |
chr12 | 112033290 | 112033361 | E068 | 39578 |
chr12 | 112033588 | 112033662 | E068 | 39876 |
chr12 | 112033968 | 112034040 | E068 | 40256 |
chr12 | 112034042 | 112034135 | E068 | 40330 |
chr12 | 111964831 | 111965022 | E069 | -28690 |
chr12 | 111965054 | 111965120 | E069 | -28592 |
chr12 | 111965328 | 111965388 | E069 | -28324 |
chr12 | 111965441 | 111965571 | E069 | -28141 |
chr12 | 111986577 | 111986627 | E069 | -7085 |
chr12 | 111995075 | 111995277 | E069 | 1363 |
chr12 | 111995315 | 111995599 | E069 | 1603 |
chr12 | 111995661 | 111995851 | E069 | 1949 |
chr12 | 112006408 | 112006448 | E069 | 12696 |
chr12 | 112006565 | 112006730 | E069 | 12853 |
chr12 | 112006871 | 112007047 | E069 | 13159 |
chr12 | 112007090 | 112007157 | E069 | 13378 |
chr12 | 112007223 | 112007484 | E069 | 13511 |
chr12 | 112008243 | 112008407 | E069 | 14531 |
chr12 | 112008422 | 112008670 | E069 | 14710 |
chr12 | 112019506 | 112019703 | E069 | 25794 |
chr12 | 112019896 | 112019982 | E069 | 26184 |
chr12 | 112020172 | 112020212 | E069 | 26460 |
chr12 | 112032894 | 112032954 | E069 | 39182 |
chr12 | 112033098 | 112033182 | E069 | 39386 |
chr12 | 112033290 | 112033361 | E069 | 39578 |
chr12 | 112033588 | 112033662 | E069 | 39876 |
chr12 | 112033968 | 112034040 | E069 | 40256 |
chr12 | 112034042 | 112034135 | E069 | 40330 |
chr12 | 112008422 | 112008670 | E070 | 14710 |
chr12 | 112031803 | 112032075 | E070 | 38091 |
chr12 | 112033098 | 112033182 | E070 | 39386 |
chr12 | 112033290 | 112033361 | E070 | 39578 |
chr12 | 111964831 | 111965022 | E071 | -28690 |
chr12 | 111965054 | 111965120 | E071 | -28592 |
chr12 | 111965328 | 111965388 | E071 | -28324 |
chr12 | 111965441 | 111965571 | E071 | -28141 |
chr12 | 111986011 | 111986150 | E071 | -7562 |
chr12 | 111986577 | 111986627 | E071 | -7085 |
chr12 | 111995075 | 111995277 | E071 | 1363 |
chr12 | 111995315 | 111995599 | E071 | 1603 |
chr12 | 111998386 | 111998436 | E071 | 4674 |
chr12 | 111998439 | 111998544 | E071 | 4727 |
chr12 | 111998569 | 111998626 | E071 | 4857 |
chr12 | 111998717 | 111998777 | E071 | 5005 |
chr12 | 111998880 | 111998930 | E071 | 5168 |
chr12 | 112006408 | 112006448 | E071 | 12696 |
chr12 | 112006565 | 112006730 | E071 | 12853 |
chr12 | 112006871 | 112007047 | E071 | 13159 |
chr12 | 112007090 | 112007157 | E071 | 13378 |
chr12 | 112007223 | 112007484 | E071 | 13511 |
chr12 | 112007565 | 112007664 | E071 | 13853 |
chr12 | 112007679 | 112007719 | E071 | 13967 |
chr12 | 112007759 | 112007843 | E071 | 14047 |
chr12 | 112007864 | 112008170 | E071 | 14152 |
chr12 | 112008243 | 112008407 | E071 | 14531 |
chr12 | 112008422 | 112008670 | E071 | 14710 |
chr12 | 112008735 | 112008859 | E071 | 15023 |
chr12 | 112008903 | 112008973 | E071 | 15191 |
chr12 | 112009162 | 112009264 | E071 | 15450 |
chr12 | 112019328 | 112019453 | E071 | 25616 |
chr12 | 112019506 | 112019703 | E071 | 25794 |
chr12 | 112031803 | 112032075 | E071 | 38091 |
chr12 | 112032345 | 112032406 | E071 | 38633 |
chr12 | 112032644 | 112032750 | E071 | 38932 |
chr12 | 112032894 | 112032954 | E071 | 39182 |
chr12 | 112033098 | 112033182 | E071 | 39386 |
chr12 | 112033968 | 112034040 | E071 | 40256 |
chr12 | 112034042 | 112034135 | E071 | 40330 |
chr12 | 111964831 | 111965022 | E072 | -28690 |
chr12 | 111965054 | 111965120 | E072 | -28592 |
chr12 | 111965328 | 111965388 | E072 | -28324 |
chr12 | 111965441 | 111965571 | E072 | -28141 |
chr12 | 111998386 | 111998436 | E072 | 4674 |
chr12 | 111998439 | 111998544 | E072 | 4727 |
chr12 | 111998569 | 111998626 | E072 | 4857 |
chr12 | 112006408 | 112006448 | E072 | 12696 |
chr12 | 112006565 | 112006730 | E072 | 12853 |
chr12 | 112007223 | 112007484 | E072 | 13511 |
chr12 | 112007565 | 112007664 | E072 | 13853 |
chr12 | 112007679 | 112007719 | E072 | 13967 |
chr12 | 112007759 | 112007843 | E072 | 14047 |
chr12 | 112007864 | 112008170 | E072 | 14152 |
chr12 | 112008243 | 112008407 | E072 | 14531 |
chr12 | 112008422 | 112008670 | E072 | 14710 |
chr12 | 112019328 | 112019453 | E072 | 25616 |
chr12 | 112019506 | 112019703 | E072 | 25794 |
chr12 | 112033098 | 112033182 | E072 | 39386 |
chr12 | 112033968 | 112034040 | E072 | 40256 |
chr12 | 112034042 | 112034135 | E072 | 40330 |
chr12 | 111964831 | 111965022 | E073 | -28690 |
chr12 | 111965054 | 111965120 | E073 | -28592 |
chr12 | 111965328 | 111965388 | E073 | -28324 |
chr12 | 111965441 | 111965571 | E073 | -28141 |
chr12 | 112006408 | 112006448 | E073 | 12696 |
chr12 | 112006565 | 112006730 | E073 | 12853 |
chr12 | 112006871 | 112007047 | E073 | 13159 |
chr12 | 112007090 | 112007157 | E073 | 13378 |
chr12 | 112007223 | 112007484 | E073 | 13511 |
chr12 | 112007565 | 112007664 | E073 | 13853 |
chr12 | 112007679 | 112007719 | E073 | 13967 |
chr12 | 112007759 | 112007843 | E073 | 14047 |
chr12 | 112007864 | 112008170 | E073 | 14152 |
chr12 | 112015973 | 112016618 | E073 | 22261 |
chr12 | 112033098 | 112033182 | E073 | 39386 |
chr12 | 112033290 | 112033361 | E073 | 39578 |
chr12 | 112033588 | 112033662 | E073 | 39876 |
chr12 | 112033968 | 112034040 | E073 | 40256 |
chr12 | 112034042 | 112034135 | E073 | 40330 |
chr12 | 111964831 | 111965022 | E074 | -28690 |
chr12 | 111965054 | 111965120 | E074 | -28592 |
chr12 | 111965328 | 111965388 | E074 | -28324 |
chr12 | 111965441 | 111965571 | E074 | -28141 |
chr12 | 111994089 | 111994153 | E074 | 377 |
chr12 | 111994238 | 111994324 | E074 | 526 |
chr12 | 111995075 | 111995277 | E074 | 1363 |
chr12 | 111995315 | 111995599 | E074 | 1603 |
chr12 | 111995661 | 111995851 | E074 | 1949 |
chr12 | 112006871 | 112007047 | E074 | 13159 |
chr12 | 112007090 | 112007157 | E074 | 13378 |
chr12 | 112007223 | 112007484 | E074 | 13511 |
chr12 | 112007565 | 112007664 | E074 | 13853 |
chr12 | 112007679 | 112007719 | E074 | 13967 |
chr12 | 112007759 | 112007843 | E074 | 14047 |
chr12 | 112007864 | 112008170 | E074 | 14152 |
chr12 | 112008243 | 112008407 | E074 | 14531 |
chr12 | 112008422 | 112008670 | E074 | 14710 |
chr12 | 112008735 | 112008859 | E074 | 15023 |
chr12 | 112019328 | 112019453 | E074 | 25616 |
chr12 | 112019506 | 112019703 | E074 | 25794 |
chr12 | 112031179 | 112031219 | E074 | 37467 |
chr12 | 112031250 | 112031389 | E074 | 37538 |
chr12 | 112031424 | 112031568 | E074 | 37712 |
chr12 | 112031803 | 112032075 | E074 | 38091 |
chr12 | 112032345 | 112032406 | E074 | 38633 |
chr12 | 112032644 | 112032750 | E074 | 38932 |
chr12 | 112032894 | 112032954 | E074 | 39182 |
chr12 | 112033098 | 112033182 | E074 | 39386 |
chr12 | 112033290 | 112033361 | E074 | 39578 |
chr12 | 112033588 | 112033662 | E074 | 39876 |
chr12 | 112033968 | 112034040 | E074 | 40256 |
chr12 | 112034042 | 112034135 | E074 | 40330 |
chr12 | 111994238 | 111994324 | E081 | 526 |
chr12 | 112030760 | 112030905 | E081 | 37048 |
chr12 | 112031424 | 112031568 | E081 | 37712 |
chr12 | 112031803 | 112032075 | E081 | 38091 |
chr12 | 112033098 | 112033182 | E081 | 39386 |
chr12 | 112033290 | 112033361 | E081 | 39578 |
chr12 | 112033588 | 112033662 | E081 | 39876 |
chr12 | 112033968 | 112034040 | E081 | 40256 |
chr12 | 112034042 | 112034135 | E081 | 40330 |
chr12 | 112031803 | 112032075 | E082 | 38091 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr12 | 112034840 | 112038369 | E067 | 41128 |
chr12 | 112034840 | 112038369 | E068 | 41128 |
chr12 | 112034840 | 112038369 | E069 | 41128 |
chr12 | 112034840 | 112038369 | E070 | 41128 |
chr12 | 112034840 | 112038369 | E071 | 41128 |
chr12 | 112034840 | 112038369 | E072 | 41128 |
chr12 | 112034840 | 112038369 | E073 | 41128 |
chr12 | 112034840 | 112038369 | E074 | 41128 |
chr12 | 112034840 | 112038369 | E081 | 41128 |
chr12 | 112034840 | 112038369 | E082 | 41128 |