Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.155775518A>G |
GRCh37.p13 chr 5 | NC_000005.9:g.155202528A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SGCD transcript variant 1 | NM_000337.5:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant 3 | NM_001128209.1:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant 2 | NM_172244.2:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant X2 | XM_017009724.1:c. | N/A | Intron Variant |
SGCD transcript variant X3 | XM_005265966.4:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant X5 | XM_005265967.2:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant X4 | XM_011534621.2:c. | N/A | Genic Upstream Transcript Variant |
SGCD transcript variant X1 | XM_017009723.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.884 | G=0.116 |
1000Genomes | American | Sub | 694 | A=0.970 | G=0.030 |
1000Genomes | East Asian | Sub | 1008 | A=0.932 | G=0.068 |
1000Genomes | Europe | Sub | 1006 | A=0.984 | G=0.016 |
1000Genomes | Global | Study-wide | 5008 | A=0.939 | G=0.061 |
1000Genomes | South Asian | Sub | 978 | A=0.950 | G=0.050 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.990 | G=0.010 |
The Genome Aggregation Database | African | Sub | 8700 | A=0.882 | G=0.118 |
The Genome Aggregation Database | American | Sub | 836 | A=0.970 | G=0.030 |
The Genome Aggregation Database | East Asian | Sub | 1584 | A=0.956 | G=0.044 |
The Genome Aggregation Database | Europe | Sub | 18490 | A=0.990 | G=0.009 |
The Genome Aggregation Database | Global | Study-wide | 29912 | A=0.956 | G=0.044 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.940 | G=0.060 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.940 | G=0.059 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.991 | G=0.009 |
PMID | Title | Author | Journal |
---|---|---|---|
22006218 | Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence. | Yoon D | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs11134474 | 8E-06 | Smoking behavior | 22006218 |
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) |
---|---|---|---|---|
chr5 | 155188741 | 155188804 | E067 | -13724 |