Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 21 | NC_000021.9:g.21271400A>G |
GRCh37.p13 chr 21 | NC_000021.8:g.22643720A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NCAM2 transcript | NM_004540.3:c. | N/A | Intron Variant |
NCAM2 transcript variant X1 | XM_011529575.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X2 | XM_011529576.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X4 | XM_011529579.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X5 | XM_011529580.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X6 | XM_011529581.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X8 | XM_011529582.2:c. | N/A | Intron Variant |
NCAM2 transcript variant X3 | XM_017028353.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X7 | XM_017028354.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X9 | XM_017028355.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X10 | XM_017028356.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X12 | XM_017028357.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X13 | XM_017028358.1:c. | N/A | Intron Variant |
NCAM2 transcript variant X11 | XM_011529585.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.095 | G=0.905 |
1000Genomes | American | Sub | 694 | A=0.130 | G=0.870 |
1000Genomes | East Asian | Sub | 1008 | A=0.006 | G=0.994 |
1000Genomes | Europe | Sub | 1006 | A=0.222 | G=0.778 |
1000Genomes | Global | Study-wide | 5008 | A=0.105 | G=0.895 |
1000Genomes | South Asian | Sub | 978 | A=0.080 | G=0.920 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.203 | G=0.797 |
The Genome Aggregation Database | African | Sub | 8722 | A=0.108 | G=0.892 |
The Genome Aggregation Database | American | Sub | 836 | A=0.150 | G=0.850 |
The Genome Aggregation Database | East Asian | Sub | 1620 | A=0.004 | G=0.996 |
The Genome Aggregation Database | Europe | Sub | 18484 | A=0.211 | G=0.789 |
The Genome Aggregation Database | Global | Study-wide | 29962 | A=0.168 | G=0.831 |
The Genome Aggregation Database | Other | Sub | 300 | A=0.240 | G=0.760 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.159 | G=0.840 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.199 | G=0.801 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs8127865 | 0.000052 | alcoholism | pha002893 |
rs8127865 | 0.000052 | alcohol dependence | 20201924 |
rs8127865 | 0.00085 | Alcohol dependence (early age of onset) | 20201924 |
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 ) |
---|---|---|---|---|
chr21 | 22598423 | 22598488 | E067 | -45232 |
chr21 | 22598718 | 22598785 | E067 | -44935 |
chr21 | 22598909 | 22599069 | E067 | -44651 |
chr21 | 22599140 | 22599188 | E067 | -44532 |
chr21 | 22609405 | 22609501 | E067 | -34219 |
chr21 | 22598423 | 22598488 | E068 | -45232 |
chr21 | 22598718 | 22598785 | E068 | -44935 |
chr21 | 22598909 | 22599069 | E068 | -44651 |
chr21 | 22599140 | 22599188 | E068 | -44532 |
chr21 | 22604439 | 22604511 | E068 | -39209 |
chr21 | 22608034 | 22608078 | E068 | -35642 |
chr21 | 22609405 | 22609501 | E068 | -34219 |
chr21 | 22627609 | 22627745 | E068 | -15975 |
chr21 | 22629346 | 22629397 | E068 | -14323 |
chr21 | 22640512 | 22640562 | E068 | -3158 |
chr21 | 22679396 | 22679436 | E068 | 35676 |
chr21 | 22598423 | 22598488 | E069 | -45232 |
chr21 | 22598909 | 22599069 | E069 | -44651 |
chr21 | 22599140 | 22599188 | E069 | -44532 |
chr21 | 22629346 | 22629397 | E069 | -14323 |
chr21 | 22640512 | 22640562 | E069 | -3158 |
chr21 | 22679396 | 22679436 | E069 | 35676 |
chr21 | 22598423 | 22598488 | E071 | -45232 |
chr21 | 22598718 | 22598785 | E071 | -44935 |
chr21 | 22598909 | 22599069 | E071 | -44651 |
chr21 | 22599140 | 22599188 | E071 | -44532 |
chr21 | 22609405 | 22609501 | E071 | -34219 |
chr21 | 22627514 | 22627560 | E071 | -16160 |
chr21 | 22627609 | 22627745 | E071 | -15975 |
chr21 | 22629346 | 22629397 | E071 | -14323 |
chr21 | 22679396 | 22679436 | E071 | 35676 |
chr21 | 22604702 | 22605772 | E072 | -37948 |
chr21 | 22640512 | 22640562 | E073 | -3158 |
chr21 | 22598423 | 22598488 | E074 | -45232 |
chr21 | 22598718 | 22598785 | E074 | -44935 |
chr21 | 22598909 | 22599069 | E074 | -44651 |
chr21 | 22599140 | 22599188 | E074 | -44532 |
chr21 | 22604702 | 22605772 | E074 | -37948 |
chr21 | 22627514 | 22627560 | E074 | -16160 |
chr21 | 22627609 | 22627745 | E074 | -15975 |
chr21 | 22629346 | 22629397 | E074 | -14323 |
chr21 | 22642450 | 22642507 | E074 | -1213 |
chr21 | 22679396 | 22679436 | E074 | 35676 |