Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 4 | NC_000004.12:g.41054822G>A |
GRCh37.p13 chr 4 | NC_000004.11:g.41056839G>A |
APBB2 RefSeqGene | NG_013337.1:g.164797C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
APBB2 transcript variant 2 | NM_001166050.1:c. | N/A | Intron Variant |
APBB2 transcript variant 1 | NM_004307.1:c. | N/A | Intron Variant |
APBB2 transcript variant 3 | NM_173075.4:c. | N/A | Intron Variant |
APBB2 transcript variant 4 | NM_001166051.1:c. | N/A | Genic Upstream Transcript Variant |
APBB2 transcript variant 5 | NM_001166052.1:c. | N/A | Genic Upstream Transcript Variant |
APBB2 transcript variant 6 | NM_001166053.1:c. | N/A | Genic Upstream Transcript Variant |
APBB2 transcript variant 7 | NM_001166054.1:c. | N/A | Genic Upstream Transcript Variant |
APBB2 transcript variant X23 | XM_005248101.3:c. | N/A | Intron Variant |
APBB2 transcript variant X1 | XM_006714005.3:c. | N/A | Intron Variant |
APBB2 transcript variant X3 | XM_006714007.3:c. | N/A | Intron Variant |
APBB2 transcript variant X5 | XM_006714008.3:c. | N/A | Intron Variant |
APBB2 transcript variant X6 | XM_006714009.3:c. | N/A | Intron Variant |
APBB2 transcript variant X7 | XM_006714010.3:c. | N/A | Intron Variant |
APBB2 transcript variant X15 | XM_006714011.3:c. | N/A | Intron Variant |
APBB2 transcript variant X18 | XM_006714012.3:c. | N/A | Intron Variant |
APBB2 transcript variant X4 | XM_011513686.2:c. | N/A | Intron Variant |
APBB2 transcript variant X20 | XM_011513687.2:c. | N/A | Intron Variant |
APBB2 transcript variant X28 | XM_011513688.2:c. | N/A | Intron Variant |
APBB2 transcript variant X2 | XM_017008142.1:c. | N/A | Intron Variant |
APBB2 transcript variant X8 | XM_017008143.1:c. | N/A | Intron Variant |
APBB2 transcript variant X9 | XM_017008144.1:c. | N/A | Intron Variant |
APBB2 transcript variant X10 | XM_017008145.1:c. | N/A | Intron Variant |
APBB2 transcript variant X11 | XM_017008146.1:c. | N/A | Intron Variant |
APBB2 transcript variant X12 | XM_017008147.1:c. | N/A | Intron Variant |
APBB2 transcript variant X13 | XM_017008148.1:c. | N/A | Intron Variant |
APBB2 transcript variant X14 | XM_017008149.1:c. | N/A | Intron Variant |
APBB2 transcript variant X16 | XM_017008150.1:c. | N/A | Intron Variant |
APBB2 transcript variant X17 | XM_017008151.1:c. | N/A | Intron Variant |
APBB2 transcript variant X19 | XM_017008152.1:c. | N/A | Intron Variant |
APBB2 transcript variant X21 | XM_017008153.1:c. | N/A | Intron Variant |
APBB2 transcript variant X22 | XM_017008154.1:c. | N/A | Intron Variant |
APBB2 transcript variant X24 | XM_017008155.1:c. | N/A | Intron Variant |
APBB2 transcript variant X25 | XM_017008156.1:c. | N/A | Intron Variant |
APBB2 transcript variant X26 | XM_017008157.1:c. | N/A | Intron Variant |
APBB2 transcript variant X27 | XM_017008158.1:c. | N/A | Intron Variant |
APBB2 transcript variant X29 | XM_017008159.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.920 | A=0.080 |
1000Genomes | American | Sub | 694 | G=0.990 | A=0.010 |
1000Genomes | East Asian | Sub | 1008 | G=1.000 | A=0.000 |
1000Genomes | Europe | Sub | 1006 | G=0.998 | A=0.002 |
1000Genomes | Global | Study-wide | 5008 | G=0.977 | A=0.023 |
1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.999 | A=0.001 |
The Genome Aggregation Database | African | Sub | 8684 | G=0.930 | A=0.070 |
The Genome Aggregation Database | American | Sub | 838 | G=0.990 | A=0.010 |
The Genome Aggregation Database | East Asian | Sub | 1616 | G=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18460 | G=0.999 | A=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29900 | G=0.979 | A=0.020 |
The Genome Aggregation Database | Other | Sub | 302 | G=1.000 | A=0.000 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.967 | A=0.032 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=1.000 | A=0.000 |
PMID | Title | Author | Journal |
---|---|---|---|
24143882 | Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. | Gelernter J | Biol Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs115368721 | 1.92E-08 | Opioid sensitivity | 24143882 |
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 ) |
---|---|---|---|---|
chr4 | 41016732 | 41017646 | E067 | -39193 |
chr4 | 41062429 | 41063383 | E067 | 5590 |
chr4 | 41063423 | 41063477 | E067 | 6584 |
chr4 | 41063598 | 41063812 | E067 | 6759 |
chr4 | 41063874 | 41063977 | E067 | 7035 |
chr4 | 41067568 | 41067745 | E067 | 10729 |
chr4 | 41071911 | 41072006 | E067 | 15072 |
chr4 | 41072022 | 41072152 | E067 | 15183 |
chr4 | 41073968 | 41074605 | E067 | 17129 |
chr4 | 41075794 | 41076009 | E067 | 18955 |
chr4 | 41076300 | 41076494 | E067 | 19461 |
chr4 | 41077920 | 41078176 | E067 | 21081 |
chr4 | 41078268 | 41078384 | E067 | 21429 |
chr4 | 41080530 | 41080616 | E067 | 23691 |
chr4 | 41080972 | 41081022 | E067 | 24133 |
chr4 | 41081909 | 41082666 | E067 | 25070 |
chr4 | 41083041 | 41083148 | E067 | 26202 |
chr4 | 41084046 | 41084149 | E067 | 27207 |
chr4 | 41100214 | 41100397 | E067 | 43375 |
chr4 | 41100453 | 41100631 | E067 | 43614 |
chr4 | 41100710 | 41100846 | E067 | 43871 |
chr4 | 41104197 | 41104249 | E067 | 47358 |
chr4 | 41104412 | 41104452 | E067 | 47573 |
chr4 | 41104542 | 41104931 | E067 | 47703 |
chr4 | 41105846 | 41105929 | E067 | 49007 |
chr4 | 41106211 | 41106411 | E067 | 49372 |
chr4 | 41052579 | 41052654 | E068 | -4185 |
chr4 | 41052830 | 41053416 | E068 | -3423 |
chr4 | 41053566 | 41053635 | E068 | -3204 |
chr4 | 41054465 | 41054703 | E068 | -2136 |
chr4 | 41062429 | 41063383 | E068 | 5590 |
chr4 | 41063423 | 41063477 | E068 | 6584 |
chr4 | 41063598 | 41063812 | E068 | 6759 |
chr4 | 41063874 | 41063977 | E068 | 7035 |
chr4 | 41064004 | 41064161 | E068 | 7165 |
chr4 | 41064897 | 41064985 | E068 | 8058 |
chr4 | 41067568 | 41067745 | E068 | 10729 |
chr4 | 41071295 | 41071644 | E068 | 14456 |
chr4 | 41071911 | 41072006 | E068 | 15072 |
chr4 | 41073968 | 41074605 | E068 | 17129 |
chr4 | 41077920 | 41078176 | E068 | 21081 |
chr4 | 41078268 | 41078384 | E068 | 21429 |
chr4 | 41080972 | 41081022 | E068 | 24133 |
chr4 | 41083041 | 41083148 | E068 | 26202 |
chr4 | 41084046 | 41084149 | E068 | 27207 |
chr4 | 41100214 | 41100397 | E068 | 43375 |
chr4 | 41100453 | 41100631 | E068 | 43614 |
chr4 | 41100710 | 41100846 | E068 | 43871 |
chr4 | 41104542 | 41104931 | E068 | 47703 |
chr4 | 41105165 | 41105215 | E068 | 48326 |
chr4 | 41016732 | 41017646 | E069 | -39193 |
chr4 | 41041490 | 41041693 | E069 | -15146 |
chr4 | 41052579 | 41052654 | E069 | -4185 |
chr4 | 41052830 | 41053416 | E069 | -3423 |
chr4 | 41053566 | 41053635 | E069 | -3204 |
chr4 | 41062429 | 41063383 | E069 | 5590 |
chr4 | 41063423 | 41063477 | E069 | 6584 |
chr4 | 41063598 | 41063812 | E069 | 6759 |
chr4 | 41063874 | 41063977 | E069 | 7035 |
chr4 | 41064004 | 41064161 | E069 | 7165 |
chr4 | 41064897 | 41064985 | E069 | 8058 |
chr4 | 41066866 | 41066906 | E069 | 10027 |
chr4 | 41067568 | 41067745 | E069 | 10729 |
chr4 | 41069524 | 41069654 | E069 | 12685 |
chr4 | 41071295 | 41071644 | E069 | 14456 |
chr4 | 41071911 | 41072006 | E069 | 15072 |
chr4 | 41072022 | 41072152 | E069 | 15183 |
chr4 | 41073968 | 41074605 | E069 | 17129 |
chr4 | 41075794 | 41076009 | E069 | 18955 |
chr4 | 41076897 | 41077146 | E069 | 20058 |
chr4 | 41077920 | 41078176 | E069 | 21081 |
chr4 | 41078268 | 41078384 | E069 | 21429 |
chr4 | 41079079 | 41079398 | E069 | 22240 |
chr4 | 41079805 | 41079903 | E069 | 22966 |
chr4 | 41080972 | 41081022 | E069 | 24133 |
chr4 | 41081909 | 41082666 | E069 | 25070 |
chr4 | 41083041 | 41083148 | E069 | 26202 |
chr4 | 41084046 | 41084149 | E069 | 27207 |
chr4 | 41094345 | 41094454 | E069 | 37506 |
chr4 | 41095274 | 41095347 | E069 | 38435 |
chr4 | 41100214 | 41100397 | E069 | 43375 |
chr4 | 41100453 | 41100631 | E069 | 43614 |
chr4 | 41100710 | 41100846 | E069 | 43871 |
chr4 | 41104197 | 41104249 | E069 | 47358 |
chr4 | 41104412 | 41104452 | E069 | 47573 |
chr4 | 41104542 | 41104931 | E069 | 47703 |
chr4 | 41066705 | 41066857 | E070 | 9866 |
chr4 | 41066866 | 41066906 | E070 | 10027 |
chr4 | 41067568 | 41067745 | E070 | 10729 |
chr4 | 41030484 | 41030819 | E071 | -26020 |
chr4 | 41031280 | 41031349 | E071 | -25490 |
chr4 | 41031402 | 41031465 | E071 | -25374 |
chr4 | 41040512 | 41040630 | E071 | -16209 |
chr4 | 41049631 | 41049693 | E071 | -7146 |
chr4 | 41052210 | 41052523 | E071 | -4316 |
chr4 | 41052579 | 41052654 | E071 | -4185 |
chr4 | 41052830 | 41053416 | E071 | -3423 |
chr4 | 41053566 | 41053635 | E071 | -3204 |
chr4 | 41059559 | 41059926 | E071 | 2720 |
chr4 | 41060038 | 41060131 | E071 | 3199 |
chr4 | 41063423 | 41063477 | E071 | 6584 |
chr4 | 41063598 | 41063812 | E071 | 6759 |
chr4 | 41063874 | 41063977 | E071 | 7035 |
chr4 | 41064004 | 41064161 | E071 | 7165 |
chr4 | 41064897 | 41064985 | E071 | 8058 |
chr4 | 41065714 | 41065782 | E071 | 8875 |
chr4 | 41067568 | 41067745 | E071 | 10729 |
chr4 | 41069524 | 41069654 | E071 | 12685 |
chr4 | 41071295 | 41071644 | E071 | 14456 |
chr4 | 41071911 | 41072006 | E071 | 15072 |
chr4 | 41072022 | 41072152 | E071 | 15183 |
chr4 | 41072383 | 41072495 | E071 | 15544 |
chr4 | 41073968 | 41074605 | E071 | 17129 |
chr4 | 41077920 | 41078176 | E071 | 21081 |
chr4 | 41078268 | 41078384 | E071 | 21429 |
chr4 | 41079079 | 41079398 | E071 | 22240 |
chr4 | 41079805 | 41079903 | E071 | 22966 |
chr4 | 41080530 | 41080616 | E071 | 23691 |
chr4 | 41080972 | 41081022 | E071 | 24133 |
chr4 | 41083041 | 41083148 | E071 | 26202 |
chr4 | 41084046 | 41084149 | E071 | 27207 |
chr4 | 41094345 | 41094454 | E071 | 37506 |
chr4 | 41100214 | 41100397 | E071 | 43375 |
chr4 | 41100453 | 41100631 | E071 | 43614 |
chr4 | 41100710 | 41100846 | E071 | 43871 |
chr4 | 41104197 | 41104249 | E071 | 47358 |
chr4 | 41104412 | 41104452 | E071 | 47573 |
chr4 | 41104542 | 41104931 | E071 | 47703 |
chr4 | 41031402 | 41031465 | E072 | -25374 |
chr4 | 41049631 | 41049693 | E072 | -7146 |
chr4 | 41053566 | 41053635 | E072 | -3204 |
chr4 | 41062429 | 41063383 | E072 | 5590 |
chr4 | 41063423 | 41063477 | E072 | 6584 |
chr4 | 41063598 | 41063812 | E072 | 6759 |
chr4 | 41063874 | 41063977 | E072 | 7035 |
chr4 | 41064004 | 41064161 | E072 | 7165 |
chr4 | 41064897 | 41064985 | E072 | 8058 |
chr4 | 41067568 | 41067745 | E072 | 10729 |
chr4 | 41071295 | 41071644 | E072 | 14456 |
chr4 | 41071911 | 41072006 | E072 | 15072 |
chr4 | 41072022 | 41072152 | E072 | 15183 |
chr4 | 41072383 | 41072495 | E072 | 15544 |
chr4 | 41073021 | 41073203 | E072 | 16182 |
chr4 | 41073968 | 41074605 | E072 | 17129 |
chr4 | 41075794 | 41076009 | E072 | 18955 |
chr4 | 41076300 | 41076494 | E072 | 19461 |
chr4 | 41078268 | 41078384 | E072 | 21429 |
chr4 | 41079079 | 41079398 | E072 | 22240 |
chr4 | 41079805 | 41079903 | E072 | 22966 |
chr4 | 41080530 | 41080616 | E072 | 23691 |
chr4 | 41080972 | 41081022 | E072 | 24133 |
chr4 | 41081909 | 41082666 | E072 | 25070 |
chr4 | 41083041 | 41083148 | E072 | 26202 |
chr4 | 41084046 | 41084149 | E072 | 27207 |
chr4 | 41100214 | 41100397 | E072 | 43375 |
chr4 | 41100453 | 41100631 | E072 | 43614 |
chr4 | 41100710 | 41100846 | E072 | 43871 |
chr4 | 41104412 | 41104452 | E072 | 47573 |
chr4 | 41104542 | 41104931 | E072 | 47703 |
chr4 | 41052830 | 41053416 | E073 | -3423 |
chr4 | 41053566 | 41053635 | E073 | -3204 |
chr4 | 41059559 | 41059926 | E073 | 2720 |
chr4 | 41060038 | 41060131 | E073 | 3199 |
chr4 | 41062429 | 41063383 | E073 | 5590 |
chr4 | 41063423 | 41063477 | E073 | 6584 |
chr4 | 41063598 | 41063812 | E073 | 6759 |
chr4 | 41063874 | 41063977 | E073 | 7035 |
chr4 | 41064004 | 41064161 | E073 | 7165 |
chr4 | 41066484 | 41066650 | E073 | 9645 |
chr4 | 41066705 | 41066857 | E073 | 9866 |
chr4 | 41066866 | 41066906 | E073 | 10027 |
chr4 | 41067568 | 41067745 | E073 | 10729 |
chr4 | 41073968 | 41074605 | E073 | 17129 |
chr4 | 41077920 | 41078176 | E073 | 21081 |
chr4 | 41078268 | 41078384 | E073 | 21429 |
chr4 | 41079805 | 41079903 | E073 | 22966 |
chr4 | 41083041 | 41083148 | E073 | 26202 |
chr4 | 41095274 | 41095347 | E073 | 38435 |
chr4 | 41104542 | 41104931 | E073 | 47703 |
chr4 | 41011390 | 41011814 | E074 | -45025 |
chr4 | 41016732 | 41017646 | E074 | -39193 |
chr4 | 41040512 | 41040630 | E074 | -16209 |
chr4 | 41049631 | 41049693 | E074 | -7146 |
chr4 | 41052830 | 41053416 | E074 | -3423 |
chr4 | 41053566 | 41053635 | E074 | -3204 |
chr4 | 41054465 | 41054703 | E074 | -2136 |
chr4 | 41062429 | 41063383 | E074 | 5590 |
chr4 | 41063423 | 41063477 | E074 | 6584 |
chr4 | 41063598 | 41063812 | E074 | 6759 |
chr4 | 41063874 | 41063977 | E074 | 7035 |
chr4 | 41064004 | 41064161 | E074 | 7165 |
chr4 | 41067568 | 41067745 | E074 | 10729 |
chr4 | 41069524 | 41069654 | E074 | 12685 |
chr4 | 41071295 | 41071644 | E074 | 14456 |
chr4 | 41071911 | 41072006 | E074 | 15072 |
chr4 | 41072022 | 41072152 | E074 | 15183 |
chr4 | 41073021 | 41073203 | E074 | 16182 |
chr4 | 41073968 | 41074605 | E074 | 17129 |
chr4 | 41075794 | 41076009 | E074 | 18955 |
chr4 | 41077920 | 41078176 | E074 | 21081 |
chr4 | 41078268 | 41078384 | E074 | 21429 |
chr4 | 41079079 | 41079398 | E074 | 22240 |
chr4 | 41079805 | 41079903 | E074 | 22966 |
chr4 | 41080530 | 41080616 | E074 | 23691 |
chr4 | 41080972 | 41081022 | E074 | 24133 |
chr4 | 41081909 | 41082666 | E074 | 25070 |
chr4 | 41083041 | 41083148 | E074 | 26202 |
chr4 | 41084046 | 41084149 | E074 | 27207 |
chr4 | 41094345 | 41094454 | E074 | 37506 |
chr4 | 41095274 | 41095347 | E074 | 38435 |
chr4 | 41100214 | 41100397 | E074 | 43375 |
chr4 | 41100453 | 41100631 | E074 | 43614 |
chr4 | 41100710 | 41100846 | E074 | 43871 |
chr4 | 41104197 | 41104249 | E074 | 47358 |
chr4 | 41104412 | 41104452 | E074 | 47573 |
chr4 | 41104542 | 41104931 | E074 | 47703 |
chr4 | 41105165 | 41105215 | E074 | 48326 |
chr4 | 41105275 | 41105344 | E074 | 48436 |
chr4 | 41071911 | 41072006 | E081 | 15072 |
chr4 | 41072022 | 41072152 | E081 | 15183 |
chr4 | 41076897 | 41077146 | E081 | 20058 |