Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.175318983dup |
GRCh37.p13 chr 3 | NC_000003.11:g.175036772dup |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NAALADL2 transcript | NM_207015.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X12 | XM_006713560.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X1 | XM_011512612.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X2 | XM_011512613.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X15 | XM_011512615.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X18 | XM_011512616.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X19 | XM_011512617.2:c. | N/A | Intron Variant |
NAALADL2 transcript variant X3 | XM_017006070.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X4 | XM_017006071.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X5 | XM_017006072.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X6 | XM_017006073.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X7 | XM_017006074.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X8 | XM_017006075.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X9 | XM_017006076.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X10 | XM_017006077.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X11 | XM_017006078.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X13 | XM_017006079.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X14 | XM_017006080.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X16 | XM_017006081.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X17 | XM_017006082.1:c. | N/A | Intron Variant |
NAALADL2 transcript variant X20 | XM_017006083.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | (T)5=0.715 | dupT=0.285 |
1000Genomes | American | Sub | 694 | (T)5=0.780 | dupT=0.220 |
1000Genomes | East Asian | Sub | 1008 | (T)5=0.776 | dupT=0.224 |
1000Genomes | Europe | Sub | 1006 | (T)5=0.778 | dupT=0.222 |
1000Genomes | Global | Study-wide | 5008 | (T)5=0.778 | dupT=0.222 |
1000Genomes | South Asian | Sub | 978 | (T)5=0.860 | dupT=0.140 |
The Genome Aggregation Database | African | Sub | 8712 | (T)5=0.747 | dupT=0.253 |
The Genome Aggregation Database | American | Sub | 826 | (T)5=0.790 | dupT=0.210 |
The Genome Aggregation Database | East Asian | Sub | 1616 | (T)5=0.747 | dupT=0.253 |
The Genome Aggregation Database | Europe | Sub | 18214 | (T)5=0.793 | dupT=0.206 |
The Genome Aggregation Database | Global | Study-wide | 29652 | (T)5=0.777 | dupT=0.222 |
The Genome Aggregation Database | Other | Sub | 284 | (T)5=0.830 | dupT=0.170 |
PMID | Title | Author | Journal |
---|---|---|---|
29460428 | Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population. | Gelernter J | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs58398985 | 4E-06 | response to alcohol | 29460428 |
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 | 174987945 | 174988628 | E069 | -48144 |
chr3 | 174987945 | 174988628 | E070 | -48144 |
chr3 | 174987945 | 174988628 | E071 | -48144 |
chr3 | 175056551 | 175056910 | E071 | 19779 |
chr3 | 175064761 | 175065084 | E071 | 27989 |
chr3 | 175064613 | 175064745 | E072 | 27841 |
chr3 | 175064761 | 175065084 | E072 | 27989 |
chr3 | 174987945 | 174988628 | E074 | -48144 |
chr3 | 175056551 | 175056910 | E074 | 19779 |
chr3 | 175064761 | 175065084 | E074 | 27989 |
chr3 | 174997292 | 174997503 | E081 | -39269 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 175025586 | 175025758 | E068 | -11014 |