Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr X | NC_000023.11:g.120259745C>T |
GRCh37.p13 chr X fix patch HG1442_PATCH | NW_004070886.1:g.312175C>T |
ZBTB33 RefSeqGene | NG_021334.1:g.13994C>T |
GRCh37.p13 chr X | NC_000023.10:g.119393600C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TMEM255A transcript variant 1 | NM_017938.3:c. | N/A | 3 Prime UTR Variant |
TMEM255A transcript variant 2 | NM_001104544.1:c. | N/A | 3 Prime UTR Variant |
TMEM255A transcript variant 3 | NM_001104545.1:c. | N/A | 3 Prime UTR Variant |
TMEM255A transcript variant X1 | XM_017029619.1:c. | N/A | Intron Variant |
TMEM255A transcript variant X2 | XR_001755706.1:n....XR_001755706.1:n.2259G>A | G>A | Non Coding Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1003 | C=0.960 | T=0.040 |
1000Genomes | American | Sub | 524 | C=1.000 | T=0.000 |
1000Genomes | East Asian | Sub | 764 | C=1.000 | T=0.000 |
1000Genomes | Europe | Sub | 766 | C=1.000 | T=0.000 |
1000Genomes | Global | Study-wide | 3775 | C=0.989 | T=0.011 |
1000Genomes | South Asian | Sub | 718 | C=1.000 | T=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 2889 | C=1.000 | T=0.000 |
The Genome Aggregation Database | African | Sub | 5863 | C=0.968 | T=0.032 |
The Genome Aggregation Database | American | Sub | 617 | C=1.000 | T=0.000 |
The Genome Aggregation Database | East Asian | Sub | 1033 | C=1.000 | T=0.000 |
The Genome Aggregation Database | Europe | Sub | 13202 | C=0.999 | T=0.000 |
The Genome Aggregation Database | Global | Study-wide | 20900 | C=0.990 | T=0.009 |
The Genome Aggregation Database | Other | Sub | 185 | C=0.990 | T=0.010 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.999 | T=0.001 |
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 |
---|---|---|---|
rs12857770 | 0.000466 | 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 ) |
---|---|---|---|---|
chrX | 284542 | 285166 | E067 | -27009 |
chrX | 346631 | 346723 | E067 | 34456 |
chrX | 348712 | 348843 | E067 | 36537 |
chrX | 346423 | 346554 | E068 | 34248 |
chrX | 346631 | 346723 | E068 | 34456 |
chrX | 349206 | 349515 | E068 | 37031 |
chrX | 349562 | 350206 | E068 | 37387 |
chrX | 284542 | 285166 | E069 | -27009 |
chrX | 309322 | 309457 | E069 | -2718 |
chrX | 309575 | 309735 | E069 | -2440 |
chrX | 309798 | 309933 | E069 | -2242 |
chrX | 310044 | 310405 | E069 | -1770 |
chrX | 346631 | 346723 | E069 | 34456 |
chrX | 348712 | 348843 | E069 | 36537 |
chrX | 349206 | 349515 | E069 | 37031 |
chrX | 349562 | 350206 | E069 | 37387 |
chrX | 345866 | 346045 | E070 | 33691 |
chrX | 346423 | 346554 | E070 | 34248 |
chrX | 284405 | 284455 | E071 | -27720 |
chrX | 284542 | 285166 | E071 | -27009 |
chrX | 292822 | 292902 | E071 | -19273 |
chrX | 292913 | 293062 | E071 | -19113 |
chrX | 309322 | 309457 | E071 | -2718 |
chrX | 309575 | 309735 | E071 | -2440 |
chrX | 309798 | 309933 | E071 | -2242 |
chrX | 310044 | 310405 | E071 | -1770 |
chrX | 310503 | 310755 | E071 | -1420 |
chrX | 310969 | 311189 | E071 | -986 |
chrX | 346631 | 346723 | E071 | 34456 |
chrX | 348712 | 348843 | E071 | 36537 |
chrX | 348939 | 349032 | E071 | 36764 |
chrX | 284405 | 284455 | E072 | -27720 |
chrX | 284542 | 285166 | E072 | -27009 |
chrX | 309575 | 309735 | E072 | -2440 |
chrX | 309798 | 309933 | E072 | -2242 |
chrX | 348712 | 348843 | E072 | 36537 |
chrX | 348939 | 349032 | E072 | 36764 |
chrX | 349206 | 349515 | E072 | 37031 |
chrX | 349562 | 350206 | E072 | 37387 |
chrX | 346423 | 346554 | E073 | 34248 |
chrX | 346631 | 346723 | E073 | 34456 |
chrX | 349206 | 349515 | E073 | 37031 |
chrX | 349562 | 350206 | E073 | 37387 |
chrX | 284405 | 284455 | E074 | -27720 |
chrX | 284542 | 285166 | E074 | -27009 |
chrX | 309575 | 309735 | E074 | -2440 |
chrX | 309798 | 309933 | E074 | -2242 |
chrX | 283706 | 284311 | E081 | -27864 |
chrX | 284405 | 284455 | E081 | -27720 |
chrX | 284542 | 285166 | E081 | -27009 |
chrX | 345866 | 346045 | E082 | 33691 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chrX | 346903 | 347215 | E067 | 34728 |
chrX | 347263 | 348707 | E067 | 35088 |
chrX | 333692 | 335807 | E068 | 21517 |
chrX | 346903 | 347215 | E068 | 34728 |
chrX | 347263 | 348707 | E068 | 35088 |
chrX | 346903 | 347215 | E069 | 34728 |
chrX | 347263 | 348707 | E069 | 35088 |
chrX | 333692 | 335807 | E070 | 21517 |
chrX | 346903 | 347215 | E070 | 34728 |
chrX | 347263 | 348707 | E070 | 35088 |
chrX | 346903 | 347215 | E071 | 34728 |
chrX | 347263 | 348707 | E071 | 35088 |
chrX | 346903 | 347215 | E072 | 34728 |
chrX | 347263 | 348707 | E072 | 35088 |
chrX | 333692 | 335807 | E073 | 21517 |
chrX | 346903 | 347215 | E073 | 34728 |
chrX | 347263 | 348707 | E073 | 35088 |
chrX | 346903 | 347215 | E074 | 34728 |
chrX | 347263 | 348707 | E074 | 35088 |
chrX | 347263 | 348707 | E081 | 35088 |
chrX | 346903 | 347215 | E082 | 34728 |
chrX | 347263 | 348707 | E082 | 35088 |