Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.114012440G>T |
GRCh37.p13 chr 3 | NC_000003.11:g.113731287G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CCDC191 transcript variant 1 | NM_020817.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X7 | XM_005247681.3:c. | N/A | Intron Variant |
CCDC191 transcript variant X1 | XM_006713715.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X3 | XM_011513051.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X2 | XM_011513052.2:c. | N/A | Intron Variant |
CCDC191 transcript variant X3 | XM_011513053.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X5 | XM_011513054.2:c. | N/A | Intron Variant |
CCDC191 transcript variant X2 | XM_017006956.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X4 | XM_017006957.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X8 | XM_017006958.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X9 | XM_017006959.1:c. | N/A | Intron Variant |
CCDC191 transcript variant X9 | XR_001740222.1:n. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105374048 transcript | XR_924347.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.890 | T=0.110 |
1000Genomes | American | Sub | 694 | G=0.720 | T=0.280 |
1000Genomes | East Asian | Sub | 1008 | G=0.725 | T=0.275 |
1000Genomes | Europe | Sub | 1006 | G=0.658 | T=0.342 |
1000Genomes | Global | Study-wide | 5008 | G=0.748 | T=0.252 |
1000Genomes | South Asian | Sub | 978 | G=0.690 | T=0.310 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.695 | T=0.305 |
The Genome Aggregation Database | African | Sub | 8708 | G=0.866 | T=0.134 |
The Genome Aggregation Database | American | Sub | 838 | G=0.690 | T=0.310 |
The Genome Aggregation Database | East Asian | Sub | 1610 | G=0.751 | T=0.249 |
The Genome Aggregation Database | Europe | Sub | 18432 | G=0.694 | T=0.305 |
The Genome Aggregation Database | Global | Study-wide | 29890 | G=0.747 | T=0.252 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.640 | T=0.360 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.772 | T=0.227 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.688 | T=0.312 |
PMID | Title | Author | Journal |
---|---|---|---|
22072270 | Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms. | Wang KS | J Neural Transm (Vienna) |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs324556 | 3.16E-05 | alcohol withdrawal symptoms | 22072270 |
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 ) |
---|---|---|---|---|
chr3 | 113729626 | 113729717 | E067 | -1570 |
chr3 | 113774259 | 113774309 | E068 | 42972 |
chr3 | 113774259 | 113774309 | E069 | 42972 |
chr3 | 113774259 | 113774309 | E070 | 42972 |
chr3 | 113774259 | 113774309 | E071 | 42972 |
chr3 | 113774259 | 113774309 | E072 | 42972 |
chr3 | 113774259 | 113774309 | E073 | 42972 |
chr3 | 113774259 | 113774309 | E074 | 42972 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 113774553 | 113774825 | E067 | 43266 |
chr3 | 113774875 | 113776224 | E067 | 43588 |
chr3 | 113776381 | 113776463 | E067 | 45094 |
chr3 | 113774553 | 113774825 | E068 | 43266 |
chr3 | 113774875 | 113776224 | E068 | 43588 |
chr3 | 113776381 | 113776463 | E068 | 45094 |
chr3 | 113774553 | 113774825 | E069 | 43266 |
chr3 | 113774875 | 113776224 | E069 | 43588 |
chr3 | 113776381 | 113776463 | E069 | 45094 |
chr3 | 113774553 | 113774825 | E070 | 43266 |
chr3 | 113774875 | 113776224 | E070 | 43588 |
chr3 | 113776381 | 113776463 | E070 | 45094 |
chr3 | 113774553 | 113774825 | E071 | 43266 |
chr3 | 113774875 | 113776224 | E071 | 43588 |
chr3 | 113776381 | 113776463 | E071 | 45094 |
chr3 | 113774553 | 113774825 | E072 | 43266 |
chr3 | 113774875 | 113776224 | E072 | 43588 |
chr3 | 113776381 | 113776463 | E072 | 45094 |
chr3 | 113774553 | 113774825 | E073 | 43266 |
chr3 | 113774875 | 113776224 | E073 | 43588 |
chr3 | 113776381 | 113776463 | E073 | 45094 |
chr3 | 113774553 | 113774825 | E074 | 43266 |
chr3 | 113774875 | 113776224 | E074 | 43588 |
chr3 | 113776381 | 113776463 | E074 | 45094 |
chr3 | 113774553 | 113774825 | E081 | 43266 |
chr3 | 113774875 | 113776224 | E081 | 43588 |
chr3 | 113776381 | 113776463 | E081 | 45094 |
chr3 | 113774553 | 113774825 | E082 | 43266 |
chr3 | 113774875 | 113776224 | E082 | 43588 |
chr3 | 113776381 | 113776463 | E082 | 45094 |