Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 14 | NC_000014.9:g.66562315G>A |
GRCh37.p13 chr 14 | NC_000014.8:g.67029033G>A |
GPHN RefSeqGene | NG_008875.1:g.59909G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
GPHN transcript variant 2 | NM_001024218.1:c. | N/A | Intron Variant |
GPHN transcript variant 1 | NM_020806.4:c. | N/A | Intron Variant |
GPHN transcript variant X14 | XM_005267254.3:c. | N/A | Intron Variant |
GPHN transcript variant X1 | XM_011536340.2:c. | N/A | Intron Variant |
GPHN transcript variant X3 | XM_011536342.2:c. | N/A | Intron Variant |
GPHN transcript variant X5 | XM_011536343.2:c. | N/A | Intron Variant |
GPHN transcript variant X6 | XM_011536344.2:c. | N/A | Intron Variant |
GPHN transcript variant X8 | XM_011536345.2:c. | N/A | Intron Variant |
GPHN transcript variant X9 | XM_011536346.2:c. | N/A | Intron Variant |
GPHN transcript variant X15 | XM_011536347.2:c. | N/A | Intron Variant |
GPHN transcript variant X2 | XM_017020913.1:c. | N/A | Intron Variant |
GPHN transcript variant X4 | XM_017020914.1:c. | N/A | Intron Variant |
GPHN transcript variant X7 | XM_017020915.1:c. | N/A | Intron Variant |
GPHN transcript variant X10 | XM_017020916.1:c. | N/A | Intron Variant |
GPHN transcript variant X11 | XM_017020917.1:c. | N/A | Intron Variant |
GPHN transcript variant X12 | XM_017020918.1:c. | N/A | Intron Variant |
GPHN transcript variant X13 | XM_017020919.1:c. | N/A | Intron Variant |
GPHN transcript variant X16 | XM_017020920.1:c. | N/A | Intron Variant |
GPHN transcript variant X17 | XM_017020921.1:c. | N/A | Intron Variant |
GPHN transcript variant X18 | XM_017020922.1:c. | N/A | Intron Variant |
GPHN transcript variant X19 | XM_017020923.1:c. | N/A | Intron Variant |
GPHN transcript variant X20 | XM_017020924.1:c. | N/A | Intron Variant |
GPHN transcript variant X21 | XM_017020925.1:c. | N/A | Intron Variant |
GPHN transcript variant X22 | XM_017020926.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.997 | A=0.003 |
1000Genomes | American | Sub | 694 | G=0.960 | A=0.040 |
1000Genomes | East Asian | Sub | 1008 | G=0.999 | A=0.001 |
1000Genomes | Europe | Sub | 1006 | G=0.906 | A=0.094 |
1000Genomes | Global | Study-wide | 5008 | G=0.972 | A=0.028 |
1000Genomes | South Asian | Sub | 978 | G=0.990 | A=0.010 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.885 | A=0.115 |
The Genome Aggregation Database | African | Sub | 8732 | G=0.980 | A=0.020 |
The Genome Aggregation Database | American | Sub | 836 | G=0.950 | A=0.050 |
The Genome Aggregation Database | East Asian | Sub | 1612 | G=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18474 | G=0.875 | A=0.124 |
The Genome Aggregation Database | Global | Study-wide | 29956 | G=0.915 | A=0.084 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.960 | A=0.040 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.939 | A=0.060 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.883 | A=0.117 |
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 |
---|---|---|---|
rs7159831 | 0.00089 | alcohol dependence | 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 ) |
---|---|---|---|---|
chr14 | 67031650 | 67031700 | E067 | 2617 |
chr14 | 67006813 | 67006872 | E068 | -22161 |
chr14 | 67006919 | 67007069 | E068 | -21964 |
chr14 | 67005889 | 67005948 | E069 | -23085 |
chr14 | 67005986 | 67006043 | E069 | -22990 |
chr14 | 67006813 | 67006872 | E069 | -22161 |
chr14 | 67006919 | 67007069 | E069 | -21964 |
chr14 | 67005889 | 67005948 | E071 | -23085 |
chr14 | 67005986 | 67006043 | E071 | -22990 |
chr14 | 67006813 | 67006872 | E071 | -22161 |
chr14 | 67006919 | 67007069 | E071 | -21964 |
chr14 | 67008524 | 67008578 | E071 | -20455 |
chr14 | 67073705 | 67073959 | E071 | 44672 |
chr14 | 67074192 | 67074272 | E071 | 45159 |
chr14 | 67005889 | 67005948 | E072 | -23085 |
chr14 | 67005986 | 67006043 | E072 | -22990 |
chr14 | 67006813 | 67006872 | E072 | -22161 |
chr14 | 67006919 | 67007069 | E072 | -21964 |
chr14 | 67006813 | 67006872 | E073 | -22161 |
chr14 | 67006919 | 67007069 | E073 | -21964 |
chr14 | 67005889 | 67005948 | E074 | -23085 |
chr14 | 67005986 | 67006043 | E074 | -22990 |
chr14 | 67006813 | 67006872 | E074 | -22161 |
chr14 | 67006919 | 67007069 | E074 | -21964 |
chr14 | 67008524 | 67008578 | E074 | -20455 |