Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 17 | NC_000017.11:g.64505387G>A |
GRCh37.p13 chr 17 fix patch HG183_PATCH | NW_003315947.1:g.309234G>A |
GRCh37.p13 chr 17 | NC_000017.10:g.62501505G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DDX5 transcript variant 1 | NM_001320595.1:c. | N/A | Intron Variant |
DDX5 transcript variant 3 | NM_001320596.1:c. | N/A | Intron Variant |
DDX5 transcript variant 4 | NM_001320597.1:c. | N/A | Intron Variant |
DDX5 transcript variant 2 | NM_004396.4:c. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CEP95 transcript variant 2 | NM_001316990.1:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant 1 | NM_138363.2:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant 3 | NR_133644.1:n. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X1 | XM_005257779.3:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X4 | XM_005257780.2:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X4 | XM_006722166.3:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X9 | XM_011525458.2:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X3 | XM_017025287.1:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X5 | XM_017025288.1:c. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X7 | XR_001752675.1:n. | N/A | Upstream Transcript Variant |
CEP95 transcript variant X7 | XR_001752676.1:n. | N/A | Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.960 | A=0.040 |
1000Genomes | American | Sub | 694 | G=0.870 | A=0.130 |
1000Genomes | East Asian | Sub | 1008 | G=0.973 | A=0.027 |
1000Genomes | Europe | Sub | 1006 | G=0.962 | A=0.038 |
1000Genomes | Global | Study-wide | 5008 | G=0.952 | A=0.048 |
1000Genomes | South Asian | Sub | 978 | G=0.970 | A=0.030 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.965 | A=0.035 |
The Genome Aggregation Database | African | Sub | 8702 | G=0.960 | A=0.040 |
The Genome Aggregation Database | American | Sub | 836 | G=0.870 | A=0.130 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=0.967 | A=0.033 |
The Genome Aggregation Database | Europe | Sub | 18474 | G=0.949 | A=0.050 |
The Genome Aggregation Database | Global | Study-wide | 29936 | G=0.951 | A=0.048 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.960 | A=0.040 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.958 | A=0.041 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.964 | A=0.036 |
PMID | Title | Author | Journal |
---|---|---|---|
20158304 | A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. | Lind PA | Twin Res Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs16947824 | 0.00000793 | alcohol and nictotine co-dependence | 20158304 |
rs16947824 | 0.0000143 | alcohol dependence | 20158304 |
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 ) |
---|---|---|---|---|
chr17 | 261323 | 261907 | E067 | -47327 |
chr17 | 261981 | 262046 | E067 | -47188 |
chr17 | 261323 | 261907 | E068 | -47327 |
chr17 | 261981 | 262046 | E068 | -47188 |
chr17 | 261323 | 261907 | E069 | -47327 |
chr17 | 261981 | 262046 | E069 | -47188 |
chr17 | 261323 | 261907 | E070 | -47327 |
chr17 | 277534 | 277610 | E070 | -31624 |
chr17 | 277649 | 277834 | E070 | -31400 |
chr17 | 261323 | 261907 | E071 | -47327 |
chr17 | 261981 | 262046 | E071 | -47188 |
chr17 | 261323 | 261907 | E072 | -47327 |
chr17 | 261981 | 262046 | E072 | -47188 |
chr17 | 261323 | 261907 | E073 | -47327 |
chr17 | 261981 | 262046 | E073 | -47188 |
chr17 | 261323 | 261907 | E074 | -47327 |
chr17 | 261323 | 261907 | E081 | -47327 |
chr17 | 261981 | 262046 | E081 | -47188 |
chr17 | 272060 | 272344 | E081 | -36890 |
chr17 | 261981 | 262046 | E082 | -47188 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr17 | 259319 | 261194 | E067 | -48040 |
chr17 | 259319 | 261194 | E068 | -48040 |
chr17 | 259319 | 261194 | E069 | -48040 |
chr17 | 259319 | 261194 | E070 | -48040 |
chr17 | 259319 | 261194 | E071 | -48040 |
chr17 | 259319 | 261194 | E072 | -48040 |
chr17 | 259319 | 261194 | E073 | -48040 |
chr17 | 259319 | 261194 | E074 | -48040 |
chr17 | 259319 | 261194 | E081 | -48040 |
chr17 | 259319 | 261194 | E082 | -48040 |